| Eponyms in category: Developmental anomalies |
| 207
main and alternative
entries found.
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| Aarskog's syndrome |
| A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. |
| Aarskog-Scott syndrome (Aarskog's syndrome) |
| A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. |
| Aberfeld’s syndrome (Schwartz-Jampel syndrome (Oscar Schwartz)) |
| A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. |
| Accelerated skeletal maturation, Marshall Smith type (Marshall-Smith syndrome) |
| A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. |
| Achard's syndrome (Marfan's syndrome I) |
| A disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. |
| Alagille's syndrome |
| A congenital familial syndrome marked by clinical picture with intrahepatic cholestasis, neonatal jaundice, and hepatomegaly. |
| Albright-Butler-Bloomberg disease |
| A metabolic syndrome marked by dwarfism and other severe developmental anomalies. |
| Albright-Butler-Bloomberg syndrome (Albright-Butler-Bloomberg disease) |
| A metabolic syndrome marked by dwarfism and other severe developmental anomalies. |
| Albright-McCune-Sternberg syndrome (McCune-Albright syndrome) |
| A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, and endocrine disorders. |
| Alezzandrini's syndrome |
| Developmental anomaly marked by tapetoretinal degeneration, and, after months or years, unilateral facial vitiligo and poliosis appear on the same side. |
| Allan-Herndon syndrome (Allan-Herndon-Dudley syndrome) |
| A syndrome of retarded motor development, muscular atrophy, joint contractures and hyporeflexia.
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| Allan-Herndon-Dudley syndrome |
| A syndrome of retarded motor development, muscular atrophy, joint contractures and hyporeflexia.
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| Anderson's syndrome |
| A familial syndrome present from birth characterized by multiple bone abnormalities and peculiar facies. |
| André's syndrome |
| A syndrome of peculiar facies and osseous defect.
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| Angelman's syndrome |
| A chromosome 15 disorder comprising microcephaly with mental retardation, epilepsy, ataxic gait or complete inability to walk, muscle hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, etc.
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| Anton-Vogt syndrome (Hammond's disease) |
| A disturbance with onset months after birth characterised by slow, writhing, purposeless movements mainly affecting the hands and face, with forced laughter and crying. |
| Arias' syndrome (Sergio Arias Cazorla) |
| A hereditary syndrome, marked by impairment of hearing, hypoplasia of the radius, external ophthalmoplegia, thrombocytopenia, and leukocytosis. |
| Armendares' syndrome |
| A disorder that manifests with dwarfism/short stature, microcephaly, cranial asymmetry, craniosynostosis, and retinitis pigmentosa. |
| Asboe=Hansen's disease (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Ashley's syndrome |
| A syndrome of unusual facies, musculoskeletal anomalies, hip dislocation, scoliosis, vertical talus, and hand abnormalities. |
| Audry’s syndrome I (Touraine-Solente-Golé syndrome) |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Bakwin-Eiger syndrome |
| Hereditary skeletal dysplasia affecting both sexes with characteristic cortical hyperplasia, macrocrania and hyperphosphatasis. |
| Baller-Gerold syndrome |
| A disorder characterized by craniosynostosis and hypoplasia or absence of a radius, delayed psychomotor development, and variable craniofacial, cardiac, renal, and skeletal defects. |
| Bamatter's syndrome |
| A rare developmental disturbance of connective tissue with too early aging processes of the skin and generalised osteopenia, also characterized by growth retardation, hyperlaxity, atrophy, and predisposition to fractures. |
| Bamatter-Franceschetti-Klein-Sierro-syndrome (Bamatter's syndrome) |
| A rare developmental disturbance of connective tissue with too early aging processes of the skin and generalised osteopenia, also characterized by growth retardation, hyperlaxity, atrophy, and predisposition to fractures. |
| Beals-Hecht syndrome (Hecht-Beals syndrome (Frederick Hecht)) |
| A relatively rare syndrome characterized by the inability to open the mouth completely (trismus) and short finger-flexor tendons with wrist extension (pseudocamptodactyly), various foot deformities, and less than normal stature. |
| Beckwith's syndrome (Beckwith-Wiedemann syndrome) |
| A syndrome comprising gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele. |
| Beckwith-Wiedemann syndrome |
| A syndrome comprising gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele. |
| Bloch-Miescher syndrome (Miescher's syndrome) |
| A familial syndrome characterized by acanthosis nigricans in combination with hypertrichosis, failure to thrive, growth deficiency, lipodystrophylike disorders, insulin-resistant diabetes mellitus, and orofacial deformities with coarse facies. |
| Bloch-Siemens syndrome (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bloch-Sulzberger disease (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bloch-Sulzberger melanoblastosis (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bloch-Sulzberger pigment dermatosis (Bruno Bloch) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bremer’s status dysraphicus syndrome (Passow's syndrome) |
| An association of Horner's syndrome with heterochromia iridis. |
| Brugsch's syndrome (same condition plus acromicria) (Touraine-Solente-Golé syndrome) |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Cervenka’s syndrome (Pepper's syndrome) |
| An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. |
| Christian's brachydactyly syndrome |
| A familial syndrome of mental retardation, brachydactyly, short thumbs and hallux varus with varism. |
| Christian's syndrome I |
| A syndrome characterised by craniosynostosis, arthrogryposis, and cleft palate associated with microcephaly, prominent occiput, hypertelorism, antimongoloid palpebral fissures, ophthalmoplegia, abnormal ear placement, and bifid uvula. |
| Christian's syndrome II |
| A familial syndrome of short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, and short middle phalanges. |
| Christian-Andrews-Conneally-Muller syndrome (Christian's syndrome I) |
| A syndrome characterised by craniosynostosis, arthrogryposis, and cleft palate associated with microcephaly, prominent occiput, hypertelorism, antimongoloid palpebral fissures, ophthalmoplegia, abnormal ear placement, and bifid uvula. |
| Cockayne's syndrome |
| Symptom complex with long list of clinical features, including dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose, and mental retardation. |
| Cohen's syndrome (Pepper's syndrome) |
| An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. |
| Dandy-Walker-like syndrome |
| A familial syndrome combining characteristics of the Dandy-Walker syndrome with other abnormalities. |
| Debré- Semélaigne syndrome (Kocher-Debré-Semélaigne syndrome or disease) |
| A syndrome of hypothyroidism associated muscular enlargement to give the appearance of an infant Hercules. |
| DiGeorge's syndrome |
| A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third and fourth pharyngeal pouches. |
| DiGeorge’s anomaly (DiGeorge's syndrome) |
| A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third and fourth pharyngeal pouches. |
| DiGeorge’s sequenz (DiGeorge's syndrome) |
| A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third and fourth pharyngeal pouches. |
| Dutch-Kentucky syndrome (Hecht-Beals syndrome (Frederick Hecht)) |
| A relatively rare syndrome characterized by the inability to open the mouth completely (trismus) and short finger-flexor tendons with wrist extension (pseudocamptodactyly), various foot deformities, and less than normal stature. |
| Ellis-van Creveld syndrome |
| A classic congenital syndrome of disproportionate short-limb dwarfism. |
| Emery-Nelson syndrome |
| Disturbance characterized by the trias of short stature, deformities of hands and feet, and unusual facies. |
| Escobar's syndrome |
| A rare syndrome of short stature, craniofacial anomalies, joint contractures, vertebral fusion anomalies, rocker-bottom feet, and pterygia of the neck, antecubital, digital, poplietal, and intercrural areas. |
| Feil-Klippel syndrome (Klippel-Feil deformity) |
| Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. |
| Franceschetti-Klein-Wildervanck syndrome (Wildervanck's syndrome I) |
| A syndrome combining fused cervical vertebrae with torticollis (Klippel-Feil syndrome) and abducens palsy with retractio bulbi (Stilling-Türk-Duane syndrome), and congenital perceptive deafness. |
| Friedreich-Erb-Arnold syndrome (Touraine-Solente-Golé syndrome) |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Garland-Moorhouse syndrome (Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Gorlin's syndrome III |
| A syndrome of dwarfism, dislocated lenses, staphyloma, glaucoma, mental retardation, etc. |
| Gorlin-Chaudry-Moss syndrome |
| A syndrome of craniosynostosis, midfacial hypoplasia, hypertrichosis, and anomalies of the heart, eyes, teeth, and external genitalia. |
| Gorlin-Sedano syndrome |
| A syndrome of short metacarpal and metatarsal bones, short terminal thumbs, short straight clavicles, and multiple impacted teeth. |
| Gorlin’s syndrome (Gorlin-Chaudry-Moss syndrome) |
| A syndrome of craniosynostosis, midfacial hypoplasia, hypertrichosis, and anomalies of the heart, eyes, teeth, and external genitalia. |
| Hammond's athetoid (Hammond's disease) |
| A disturbance with onset months after birth characterised by slow, writhing, purposeless movements mainly affecting the hands and face, with forced laughter and crying. |
| Hammond's disease |
| A disturbance with onset months after birth characterised by slow, writhing, purposeless movements mainly affecting the hands and face, with forced laughter and crying. |
| Hammond’s syndrome (Hammond's disease) |
| A disturbance with onset months after birth characterised by slow, writhing, purposeless movements mainly affecting the hands and face, with forced laughter and crying. |
| Hanhart's syndrome II |
| A rare syndrome of combined hypoplasia of the tongue and limbs. |
| Happy puppet syndrome (Angelman's syndrome) |
| A chromosome 15 disorder comprising microcephaly with mental retardation, epilepsy, ataxic gait or complete inability to walk, muscle hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, etc.
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| Harper's syndrome |
| A variant of Seckel's syndrome. |
| Hecht's syndrome (Hecht-Beals syndrome (Frederick Hecht)) |
| A relatively rare syndrome characterized by the inability to open the mouth completely (trismus) and short finger-flexor tendons with wrist extension (pseudocamptodactyly), various foot deformities, and less than normal stature. |
| Hecht-Beals syndrome (Frederick Hecht) |
| A relatively rare syndrome characterized by the inability to open the mouth completely (trismus) and short finger-flexor tendons with wrist extension (pseudocamptodactyly), various foot deformities, and less than normal stature. |
| Hecht-Beals-Wilson syndrome (Hecht-Beals syndrome (Frederick Hecht)) |
| A relatively rare syndrome characterized by the inability to open the mouth completely (trismus) and short finger-flexor tendons with wrist extension (pseudocamptodactyly), various foot deformities, and less than normal stature. |
| Herrmann-Opitz syndrome I |
| A severe developmental anomaly with mental retardation, acrocephalosyndactyly and long list of other abnormalities. |
| Herrmann-Pallister syndrome |
| Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. |
| Herrmann-Pallister-Opitz syndrome (Herrmann-Pallister syndrome) |
| Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. |
| Hootnick-Holmes syndrome |
| A familial syndrome of polysyndactyly, craniofacial anomalies, mental retardation, etc. |
| Hozay’s syndrome (Van Bogaert-Hozay syndrome) |
| A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects. |
| Hunter's disease (Hunter's syndrome (Charles A. Hunter)) |
| Rare hereditary disorder characterised by dwarfism, a coarse facies, hepatosplenomegaly, digital contractures and mental retardation and deafness. |
| Hunter's syndrome (Charles A. Hunter) |
| Rare hereditary disorder characterised by dwarfism, a coarse facies, hepatosplenomegaly, digital contractures and mental retardation and deafness. |
| Hunter’s syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler's disease (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler's syndrome |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler's variant |
| An inborn error of metabolism with features similar to a mild form of the Hurler syndrome. |
| Hurler-Hunter syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler-Pfaundler syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler-Scheie syndrome |
| A metabolic syndrome combining symptoms less severe than Hurler’s syndrome, more severe than Scheie’s syndrome. |
| Johnie McL disease (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Juvenile Paget's disease (Bakwin-Eiger syndrome) |
| Hereditary skeletal dysplasia affecting both sexes with characteristic cortical hyperplasia, macrocrania and hyperphosphatasis. |
| Kaufman's syndrome II |
| A familial syndrome marked by mental and physical retardation. |
| Kaveggia's syndrome |
| A possibly independent entity of severe mental retardation, spastic disturbances of movements with athetoid cerebral palsy, dwarfism and facial dysmorphies. |
| KBG syndrome (Herrmann-Pallister syndrome) |
| Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. |
| Keller’s syndrome (Opitz-Kaveggai syndrome) |
| Distinct disease picture with mental retardation, short stature, joint contractures, muscular hypotony, imperforate or displaced anus, macrocephaly, and characteristic facial dysmorphy, etc. |
| Kenny's syndrome |
| A hereditary skeletal dysplasia of proportionate dwarfism. |
| Kenny-Caffey syndrome (Kenny's syndrome) |
| A hereditary skeletal dysplasia of proportionate dwarfism. |
| Kenny-Linarelli syndrome (Kenny's syndrome) |
| A hereditary skeletal dysplasia of proportionate dwarfism. |
| Klippel-Feil anomalad (Klippel-Feil deformity) |
| Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. |
| Klippel-Feil deformity |
| Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. |
| Klippel-Feil phenotype (Klippel-Feil deformity) |
| Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. |
| Klippel-Feil syndrome (Klippel-Feil deformity) |
| Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. |
| Kocher-Debré-Semélaigne syndrome or disease |
| A syndrome of hypothyroidism associated muscular enlargement to give the appearance of an infant Hercules. |
| Labhart-Willi syndrome (Prader-Labhardt-Willy syndrome) |
| A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage. |
| Lenz' dysplasia |
| A syndrome of microphthalmia or anophthalmia, with variable abnormalities of the digits, teeth, heart and urogenital system. |
| Lenz’ dysmorphogenetic syndrome (Lenz' dysplasia) |
| A syndrome of microphthalmia or anophthalmia, with variable abnormalities of the digits, teeth, heart and urogenital system. |
| Lenz’ microphthalmia syndrome (Lenz' dysplasia) |
| A syndrome of microphthalmia or anophthalmia, with variable abnormalities of the digits, teeth, heart and urogenital system. |
| Lenz’ syndrome II (Lenz' dysplasia) |
| A syndrome of microphthalmia or anophthalmia, with variable abnormalities of the digits, teeth, heart and urogenital system. |
| Léri’s hypochondroplasia (Ravenna's syndrome) |
| A serious developmental anomaly affecting both sexes. |
| Marfan's hypermobility syndrome |
| A syndrome of marfanoid habitus with hypermobility of joints and hyperextensibility of the skin far exceeding the degree usually observed in Marfan’s syndrome. |
| Marfan's syndrome I |
| A disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. |
| Marfan's variant (Marfan's syndrome I) |
| A disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. |
| Marfan-Achard syndrome (Marfan's syndrome I) |
| A disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. |
| Marfan-Madelung symptom complex (Marfan-Madelung syndrome) |
| A combination of Marfan syndrome I and Madelung deformity. |
| Marfan-Madelung syndrome |
| A combination of Marfan syndrome I and Madelung deformity. |
| Marfan’s abiotrophy (Marfan's syndrome I) |
| A disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. |
| Marinesco-Garland syndrome (Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Marinesco-Sjögren-Garland syndrome (Karl Gustaf Torsten Sjögren) (Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Marshall syndrome (Marshall-Smith syndrome) |
| A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. |
| Marshall-Smith syndrome |
| A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. |
| McCune-Albright syndrome |
| A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, and endocrine disorders. |
| McKusick metaphyseal chondrodysplasia syndrome (McKusick's type of metaphyseal chondrodysplasia) |
| A syndrome of short-limbed dwarfism, leg bowing, and a variety of other skeletal features. |
| McKusick's type of metaphyseal chondrodysplasia |
| A syndrome of short-limbed dwarfism, leg bowing, and a variety of other skeletal features. |
| McKusick-Cross syndrome |
| Syndrome present from birth characterised by failure to thrive, repeated infections, diarrhoea, growth deficiency, short limbs, and small thorax. |
| Mende's syndrome |
| A congenital syndromne combining mongolid habitus, deaf mutism, and pigmentation disorders. |
| Miescher's syndrome |
| A familial syndrome characterized by acanthosis nigricans in combination with hypertrichosis, failure to thrive, growth deficiency, lipodystrophylike disorders, insulin-resistant diabetes mellitus, and orofacial deformities with coarse facies. |
| Morel's syndrome (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
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| Morel-Moore syndrome (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
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| Morgagni's trias (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
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| Morgagni-Morel-Stewart syndrome (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
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| Morgagni-Shereshevskii-Turner-Albright syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Morgagni-Stewart-Morel syndrome |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
|
| Morgagni-Turner syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Morgagni-Turner-Albright syndrome |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Morgagni’s syndrome (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
|
| Moynahan's syndrome I |
| A syndrome of multiple moles, genital hypoplasia, dwarfism, congenital mitral stenosis, and mental deficiency. |
| Moynahan's syndrome II |
| A congenital syndrome of of alopecia, epilepsy, mental retardation, and abnormal EEG. Inheritance is autosomal recessive. |
| Moynahan's syndrome III |
| A congenital ectodermal dysplasia syndrome characterized by xeroderma, talipes, tooth enamel defect, short stature, cleft palate, absence of eyelashes of lower lid, etc. |
| Neill-Dingwall syndrome (Cockayne's syndrome) |
| Symptom complex with long list of clinical features, including dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose, and mental retardation. |
| Neuhäuser-Kaveggia syndrome (Kaveggia's syndrome) |
| A possibly independent entity of severe mental retardation, spastic disturbances of movements with athetoid cerebral palsy, dwarfism and facial dysmorphies. |
| Nielsen's syndrome |
| Obsolete eponym used to indicate a combination of Klippel-Feil syndrome (congenital brevicollis) and Bonnevie-Ullrich syndrome (pterygium colli). |
| Opitz-Kaveggai syndrome |
| Distinct disease picture with mental retardation, short stature, joint contractures, muscular hypotony, imperforate or displaced anus, macrocephaly, and characteristic facial dysmorphy, etc. |
| Passow's syndrome |
| An association of Horner's syndrome with heterochromia iridis. |
| Pepper's syndrome |
| An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. |
| Pfaundler-Hurler disease (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Pfaundler-Hurler syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Prader's syndrome (Prader-Labhardt-Willy syndrome) |
| A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage. |
| Prader-Labhardt-Willy syndrome |
| A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage. |
| Prader-Labhart-Willi-Fanconi syndrome (Prader-Labhardt-Willy syndrome) |
| A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage. |
| Prader-Willi syndrome (Prader-Labhardt-Willy syndrome) |
| A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage. |
| Proteus' syndrome |
| A congenital syndrome characterised by a variety of abnormalities |
| Ravenna's syndrome |
| A serious developmental anomaly affecting both sexes. |
| Rimoin's syndrome (Rimoin-Mcalister syndrome) |
| A familial syndrome, characterized by short-limbed dwarfism, metaphyseal dysostosis, recurrent ear infections, conductive deafness, and mild mental retardation. |
| Rimoin-Mcalister syndrome |
| A familial syndrome, characterized by short-limbed dwarfism, metaphyseal dysostosis, recurrent ear infections, conductive deafness, and mild mental retardation. |
| Roy's syndrome (Touraine-Solente-Golé syndrome) |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Roy-Jutras syndrome (Touraine-Solente-Golé syndrome) |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Rud's syndrome |
| A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation. |
| Rössle's syndrome |
| Gonadal dysfunction in phenotypical female individuals with retarded growth and anomalies. |
| Saldino-Mainzer syndrome |
| A combination of renal dysplasia, pigment dystrophy of cornea, cerebellar ataxia, and skeletal dysplasia. |
| Say's syndrome |
| A familial syndrome, characterized by multiple abnormalities. |
| Say-Meyer syndrome |
| A familial syndrome of trigonocephaly, short stature, and retarded psychomotor development. |
| Schereshevskii-Turner syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Schinzel's acrocallosal syndrome (Schinzel's syndrome I) |
| A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly. |
| Schinzel's syndrome I |
| A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly. |
| Schinzel's syndrome II |
| A familiar syndrome of ulnar ray defects, hand abnormalities, microgentialism, delayed puberty, obesity, and anal atresia. |
| Schwartz-Jampel syndrome (Oscar Schwartz) |
| A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. |
| Schwartz-Jampel-Aberfeld syndrome (Schwartz-Jampel syndrome (Oscar Schwartz)) |
| A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. |
| Schwartz’ syndrome (Schwartz-Jampel syndrome (Oscar Schwartz)) |
| A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. |
| Senior syndrome II |
| A syndrome of multiple congenital anomalies, including short stature and mild intellectua |
| Sheldon-Ellis syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Siemens-Bloch pigmented dermatosis (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Siemens-Bloch-Sulzberger disease (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Simpson's syndrome (Samuel Leonard Simpson) |
| A syndrome of prepuberal obesity resulting in female habitus in boys and accentuated secondary female traits in girls. |
| Sjögren-Larsson syndrome (Rud's syndrome) |
| A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation. |
| Sjögren’s syndrome II (Karl Gustaf Torsten Sjögren) (Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Smith's syndrome (Smith-Lemli-Opitz syndrome I (David W. Smith)) |
| A syndrome of multiple abnormalities, comprising mental retardation, microcephaly, growth retardation, hypoplastic external genitalia and a characteristic facies with micrognathia and anteverted nostrils. |
| Smith-Lemli-Opitz syndrome I (David W. Smith) |
| A syndrome of multiple abnormalities, comprising mental retardation, microcephaly, growth retardation, hypoplastic external genitalia and a characteristic facies with micrognathia and anteverted nostrils. |
| Smith-Lemli-Opitz syndrome II (David W. Smith) |
| A syndrome similar to the Smith-Lemli-Opitz syndrome I which, in addition, is characterised by pseudohermaphroditism and frequent early death. |
| Smith-Theiler-Schachenmann syndrome (David W. Smith) |
| A developmental disorder affecting both sexes, characterized by severe costovertebral malformations, mental deficiency; and orofacial defects, short hand palate with a central hole, absent soft palate, absent uvula, and glossoptosis. |
| Souques-Charcot geroderma |
| A variant of Hutchinson-Gilford disease, consisting of loose, shiny, dry skin, subcutaneous atrophy, eunuchoid habitus, and intellectual deficiency. |
| Spranger's syndrome I |
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| Spranger-Wiedemann syndrome |
| A syndrome of disproportionate dwarfism, short spine, brevicollis, barrel chest, pectus carinatum, genu valgum, flat face, myopia, malar hypoplasia, kyphoscoliosis, and limited joint mobility. |
| Stewart-Morel syndrome (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
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| Stewart-Morel-Morgagni syndrome (Morgagni-Stewart-Morel syndrome) |
| A trias consisting of 1) hyperostosis frontalis interna, 2) adipositas, and 3) virilism und hirsutism.
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| Stüve-Wiedemann syndrome |
| A rare disorder characterized by bowing of the long bones, short stature, camptodactyly, respiratory distress, episodes of unexplained hyperthermia, growth and mental retardation. |
| Taybi's syndrome (André's syndrome) |
| A syndrome of peculiar facies and osseous defect.
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| Thompson’s syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Torsten Sjögren's syndrome (Karl Gustaf Torsten Sjögren) (Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Torsten’s syndrome (Karl Gustaf Torsten Sjögren) (Marinesco-Sjögren syndrome (Karl Gustaf Torsten Sjögren)) |
| A rare congenital disorder with stationary spinocerebellar ataxia, congenital cataract, hypertension, dysarthria, short stature, abnormal teeth, brittle thin hair, mental retardation and some skeletal deformities. |
| Touraine-Solente-Golé syndrome |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Turner's syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Turner-Albright syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Turner-mongolism polysyndrome |
| A syndrome combinig features of the Morgagni-Albright-Turner syndrome and Down syndrome.
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| Turner-Vary syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Uehlinger's syndrome (Touraine-Solente-Golé syndrome) |
| Osteodermopathic syndrome characterized by so-called "bull-dog scalp" lesions, clubbing of the digits; elephantiasis of long bones, enormously large hands and feet; periosteal lesions, fatigability, etc. |
| Ullrich-Nielsen syndrome (Nielsen's syndrome) |
| Obsolete eponym used to indicate a combination of Klippel-Feil syndrome (congenital brevicollis) and Bonnevie-Ullrich syndrome (pterygium colli). |
| Ullrich-Turner syndrome (Morgagni-Turner-Albright syndrome) |
| Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. |
| Van Bogaert-Hozay syndrome |
| A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects. |
| Waardenburg's syndrome I |
| Acrocephalosyndactyly characterised by multiple congenital abnormalities. |
| Watson-Miller syndrome (Alagille's syndrome) |
| A congenital familial syndrome marked by clinical picture with intrahepatic cholestasis, neonatal jaundice, and hepatomegaly. |
| Weaver's syndrome (Weaver-Smith syndrome) |
| A syndrome of large birth size, accelerated growth and skeletal maturation, associated with limb, craniofacial, neurological, and other abnormalities. |
| Weaver-Smith syndrome |
| A syndrome of large birth size, accelerated growth and skeletal maturation, associated with limb, craniofacial, neurological, and other abnormalities. |
| Weil-Albright syndrome (McCune-Albright syndrome) |
| A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, and endocrine disorders. |
| Werner's syndrome |
| A hereditary multisystem disorder characterized by premature aging, dwarfism, premature graying of the hair (canities|), alopecia, scleroderma like skin changes, cataracts, hypogonadism, diabetes mellitus, calcification of blood vessels, and osteoporosis. |
| Wiedemann's syndrome (Proteus' syndrome) |
| A congenital syndrome characterised by a variety of abnormalities |
| Wiedemann-Beckwith syndrome (Beckwith-Wiedemann syndrome) |
| A syndrome comprising gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele. |
| Wiedemann-Beckwith-Combs syndrome (Beckwith-Wiedemann syndrome) |
| A syndrome comprising gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele. |
| Wiedemann-Tolksdorf syndrome |
| A syndrome of mental retardation, delayed speech development, accelerated growth, peculiar sheep-like facies, and deformities of the fingers and toes. |
| Wiedemann’s syndrome (Beckwith-Wiedemann syndrome) |
| A syndrome comprising gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele. |
| Wildervanck's syndrome I |
| A syndrome combining fused cervical vertebrae with torticollis (Klippel-Feil syndrome) and abducens palsy with retractio bulbi (Stilling-Türk-Duane syndrome), and congenital perceptive deafness. |
| Wildervanck's syndrome II |
| A congenital syndrome of mental retardation and multiple abnormalities. |
| Wildervanck-Waardenburg-Franceschetti-Klein syndrome (Wildervanck's syndrome I) |
| A syndrome combining fused cervical vertebrae with torticollis (Klippel-Feil syndrome) and abducens palsy with retractio bulbi (Stilling-Türk-Duane syndrome), and congenital perceptive deafness. |
| Zellweger's syndrome |
| A rare hereditary disorder characterized by a large number og developmental abnormalities, including mental and growth retardation.
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