| Eponyms in category: Dwarfism - growth retardation |
| 194
main and alternative
entries found.
|
|
| Aberfeld’s syndrome (Schwartz-Jampel syndrome (Oscar Schwartz)) |
| A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. |
| 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’s hereditary osteodystrophy (Martin-Albright syndrome) |
| A condition characterised by short stature, round face, thick neck, shortness of limbs in relation to trunk. |
| Albright’s syndrome III (Martin-Albright syndrome) |
| A condition characterised by short stature, round face, thick neck, shortness of limbs in relation to trunk. |
| Arkless-Graham syndrome |
| Congenital malformation syndrome with shortening of the knuckles of the legs and hands, mental retardation, and peculiar facies. |
| Armendares' syndrome |
| A disorder that manifests with dwarfism/short stature, microcephaly, cranial asymmetry, craniosynostosis, and retinitis pigmentosa. |
| 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. |
| Bannayan's syndrome |
| A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation. |
| Bannayan-Riley-Ruvalcaba (Bannayan's syndrome) |
| A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation. |
| Bannayan-Zonana syndrome (Bannayan's syndrome) |
| A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation. |
| Bársony-Polgár syndrome 1 (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Beals' syndrome |
| A bone dysplasia, characterized by short stature, hypoplasia of the capitellum, broad shoulders, horizontal alignment of the clavicles, and peculiar ear shape with elongated attached lobules and small posteriorly attached lobules. |
| Beemer type (Beemer's syndrome) |
| A rare congenital dwarfing skeletal dysplasia. |
| Beemer's syndrome |
| A rare congenital dwarfing skeletal dysplasia. |
| Bloch-Stauffer dyshormonal syndrome (Rothmund-Thomson syndrome) |
| A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects. |
| Bloch-Stauffer syndrome (Rothmund-Thomson syndrome) |
| A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects. |
| Bonnevie-Ullrich syndrome |
| Congenital syndrome consisting of webbing of the neck (pterygium colli), lymphoedema of the hands and feet, hypoplasia of bones and muscles, short stature, syndactyly, laxity of the skin, dystrophic nails, and motor disturbances of the cranial nerves. |
| Brachmann-Cornelia de Lange syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
|
| Brachmann-de Lange syndrome |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
|
| Braham-Lenz syndrome (Lenz-Majewski syndrome) |
| A very rare syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. |
| Brailsford syndrome or disease (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Brailsford-Morquio dystrophy syndrome (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Brissaud's infantilism |
| Hypophyseal dwarfism. |
| Brissaud-Meige syndrome (Brissaud's infantilism) |
| Hypophyseal dwarfism. |
| Brissaud’s syndrome (Brissaud's infantilism) |
| Hypophyseal dwarfism. |
| Burgio's pseudodiastrophic dwarfism |
| A syndrome characterised by short-limb dwarfim, brevicollis, clubfoot, joint contractures and dislocations, cleft palate, and characteristic facies. |
| Burnier’s syndrome (Gilford-Burnier syndrome) |
| A syndrome characterised by dwarfing, adiposogenital dystrophy and optic atrophy. |
| 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. |
| 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. |
| Cornelia de Lange's syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
|
| Dale’s syndrome (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| de Lange’s syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
|
| de Morsier's syndrome III |
| Trias of dwarfism, nystagmus, and micropupil. |
| Debré-Julien Marie syndrome (Debré-Marie syndrome II) |
| A no longer commonly used term for the combination of dwarfism and disordered water metabolism with sexual infantilism. |
| Debré-Marie syndrome II |
| A no longer commonly used term for the combination of dwarfism and disordered water metabolism with sexual infantilism. |
| Desbuquois' syndrome |
| Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes. |
| Desbuquois-Grenier-Michel syndrome (Desbuquois' syndrome) |
| Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes. |
| Dyggve-Melchior-Clausen dwarfism (Dyggve-Melchior-Clausen syndrome) |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Dyggve-Melchior-Clausen syndrome |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Dyggve’s syndrome (Dyggve-Melchior-Clausen syndrome) |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Eaton-McKusick syndrome (Werner's syndrome) |
| A rare anomaly characterised by short legs due to absence of the tibia bilaterally, polydactyly of hands and feet, absence of thumbs, reduced knee movements. |
| 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. |
| Fairbank's disease (Müller-Ribbing-Clément syndrome (Walther Müller)) |
| A rare bone disturbance characterised by stunted stature, obliteration of the hollow bones, and premature degenerative atropathy, in particular of the hip joints. |
| Fairbank's syndrome II (Müller-Ribbing-Clément syndrome (Walther Müller)) |
| A rare bone disturbance characterised by stunted stature, obliteration of the hollow bones, and premature degenerative atropathy, in particular of the hip joints. |
| Fairbank's syndrome II |
| A syndrome in which short stature is associated with multiple other abnormalities of the skeleton. |
| Fairbank-Keats syndrome |
| A rare form of bone dysplasia characterised by distinctive bone lesions, disproportionate dwarfism, and severe craniofacial defect. |
| Fanconi’s syndrome, adult form. (Luder-Sheldon syndrome) |
| A syndrome characterized by faulty renal tubular reabsorption of glucose and amino acids, causing glycosuria and aminoaciduria and resultant dwarfism. |
| 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. |
| Gilford-Burnier syndrome |
| A syndrome characterised by dwarfing, adiposogenital dystrophy and optic atrophy. |
| Gilford’s syndrome (Hutchinson-Gilford disease) |
| A very rare disease of premature aging in young children, characterized mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. |
| Gorlin's syndrome III |
| A syndrome of dwarfism, dislocated lenses, staphyloma, glaucoma, mental retardation, etc. |
| Grebe and Quelce-Salgado syndrome (Grebe's syndrome) |
| Short-limbed dwarfism. |
| Grebe's syndrome |
| Short-limbed dwarfism. |
| Grebe’s chondrodysplasia (Grebe's syndrome) |
| Short-limbed dwarfism. |
| Grudzinski's osteochondropathy (Silfverskiöld's syndrome) |
| An unusual form of osteochondrodystrophy with skeletal defects. |
| Hall type of pseudoachondroplasia |
| A disturbance characterised by severe dwarfism, limb shortening and variable spinal alignment. |
| Hanhart dwarfism (Hanhart's syndrome I) |
| Ateliotic dwarfism with hypogonadism seen in only a closely inbred group of people in Switzerland and on the Adriatic island of Veglia. |
| Hanhart nanism (Hanhart's syndrome I) |
| Ateliotic dwarfism with hypogonadism seen in only a closely inbred group of people in Switzerland and on the Adriatic island of Veglia. |
| Hanhart's syndrome I |
| Ateliotic dwarfism with hypogonadism seen in only a closely inbred group of people in Switzerland and on the Adriatic island of Veglia. |
| Hanhart’s syndrome (Gilford-Burnier syndrome) |
| A syndrome characterised by dwarfing, adiposogenital dystrophy and optic atrophy. |
| 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. |
| Hoyt-Kaplan-Grumbach syndrome (de Morsier's syndrome III) |
| Trias of dwarfism, nystagmus, and micropupil. |
| 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. |
| Hutchinson-Gilford disease |
| A very rare disease of premature aging in young children, characterized mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. |
| Hutchinson-Gilford progeria (Hutchinson-Gilford disease) |
| A very rare disease of premature aging in young children, characterized mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. |
| Hutchinson-Gilford syndrome (Hutchinson-Gilford disease) |
| A very rare disease of premature aging in young children, characterized mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. |
| 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. |
| 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. |
| 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. |
| Kniest's disease (Kniest's syndrome) |
| A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis. |
| Kniest's syndrome |
| A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis. |
| Kniest’s dwarfism (Kniest's syndrome) |
| A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis. |
| Kniest’s dysplasia (Kniest's syndrome) |
| A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis. |
| Koslowski's syndrome |
| Polish paediatric radiologist, born June 6, 1928, Poznan.
His name is also spelled Koslowsky.
|
| Koslowski-Maroteaux-Spranger syndrome (Koslowski's syndrome) |
| Polish paediatric radiologist, born June 6, 1928, Poznan.
His name is also spelled Koslowsky.
|
| Koslowsky's type of chondrodysplasia (Koslowski's syndrome) |
| Polish paediatric radiologist, born June 6, 1928, Poznan.
His name is also spelled Koslowsky.
|
| Kozlowski's spondylometaphyseal dysplasia syndrome (Koslowski's syndrome) |
| Polish paediatric radiologist, born June 6, 1928, Poznan.
His name is also spelled Koslowsky.
|
| Lamy-Maroteaux syndrome |
| A syndrome characterised by prenatal micromelic dwarfism, progressive kyphoscoliosis, multiple joint contractures, etc. |
| Langer's syndrome |
| Hereditary skeletal dysplasia of short-limbed dwarfism with mesomelic micromelia, hypoplasia of ulna, fibula and hypoplastic mandibula. |
| Langer-Saldino syndrome |
| A lethal form of neonatal dwarfism. |
| Langer’s mesomelic dwarfism (Langer's syndrome) |
| Hereditary skeletal dysplasia of short-limbed dwarfism with mesomelic micromelia, hypoplasia of ulna, fibula and hypoplastic mandibula. |
| Langer’s mesomelic dysplasia (Langer's syndrome) |
| Hereditary skeletal dysplasia of short-limbed dwarfism with mesomelic micromelia, hypoplasia of ulna, fibula and hypoplastic mandibula. |
| Laron pituitary dwarfism (Laron's syndrome) |
| Syndrome of severe hypophyseal dwarfism which presents as proportionate short stature. |
| Laron type pituitary dwarfism type II (Laron's syndrome) |
| Syndrome of severe hypophyseal dwarfism which presents as proportionate short stature. |
| Laron's dwarfism (Laron's syndrome) |
| Syndrome of severe hypophyseal dwarfism which presents as proportionate short stature. |
| Laron's syndrome |
| Syndrome of severe hypophyseal dwarfism which presents as proportionate short stature. |
| Laron-type dwarfism phenotypic syndrome (Laron's syndrome) |
| Syndrome of severe hypophyseal dwarfism which presents as proportionate short stature. |
| Lenz-Majewski hyperostotic dwarfism (Lenz-Majewski syndrome) |
| A very rare syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. |
| Lenz-Majewski syndrome |
| A very rare syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. |
| Léri-Weill homozygous dyschondrosteosis (Langer's syndrome) |
| Hereditary skeletal dysplasia of short-limbed dwarfism with mesomelic micromelia, hypoplasia of ulna, fibula and hypoplastic mandibula. |
| Luder-Sheldon syndrome |
| A syndrome characterized by faulty renal tubular reabsorption of glucose and amino acids, causing glycosuria and aminoaciduria and resultant dwarfism. |
| Majewski's polydactyly syndrome (Majewski's syndrome) |
| A lethal form of neonatal dwarfism. |
| Majewski's syndrome |
| A lethal form of neonatal dwarfism. |
| Majewski’s short rib-polydactyly syndrome (Majewski's syndrome) |
| A lethal form of neonatal dwarfism. |
| 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. |
| Maroeteaux-Lamy syndrome I |
| An uncommon disorder of mucopolysaccharide marked by dwarfism, hearing loss, and progressive skeletal deformity, etc. |
| Maroteaux's MEDTS syndrome |
| A syndrome of moderate dwarfism. |
| Maroteaux-Lamy syndrome III |
| A congenital disease of bone characterized by short-limbed dwarfism, a large skull with persistent fontanelle, and other anomalies. |
| Maroteaux-Lamy syndrome IV |
| A familial type of bone dysplasia with the principal symptoms ofshort-trunk dwarfism, back pain, pain in the hips, and limitation of joint movement. |
| Maroteaux-Malamut syndrome (Arkless-Graham syndrome) |
| Congenital malformation syndrome with shortening of the knuckles of the legs and hands, mental retardation, and peculiar facies. |
| Maroteaux-Spranger-Wiedemann syndrome |
| A disturbance evident at birth characterized in childhood by dwarfism with normal body length and disproportionately long trunk, especially thorax, and short limbs, narrow chest, prominent joints, limited joint movement. |
| Martin-Albright syndrome |
| A condition characterised by short stature, round face, thick neck, shortness of limbs in relation to trunk. |
| 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. |
| Morbus Kniest (Kniest's syndrome) |
| A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis. |
| Morquio's syndrome B |
| Marquio-Brailsford syndrome with a milder phenotype. |
| Morquio-Brailsford disease (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Morquio-Brailsford syndrome |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Morquio-like syndrome (Morquio's syndrome B) |
| Marquio-Brailsford syndrome with a milder phenotype. |
| Morquio-Silfverskiöld syndrome (Silfverskiöld's syndrome) |
| An unusual form of osteochondrodystrophy with skeletal defects. |
| Morquio-Ullrich syndrome or disease (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Morquio’s syndrome or disease (Morquio-Brailsford syndrome) |
| A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. |
| Morquio’s variant syndrome (Silfverskiöld's syndrome) |
| An unusual form of osteochondrodystrophy with skeletal defects. |
| Müller-Ribbing-Clément syndrome (Walther Müller) |
| A rare bone disturbance characterised by stunted stature, obliteration of the hollow bones, and premature degenerative atropathy, in particular of the hip joints. |
| 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). |
| Nonlethal achondrogenesis Quelce-Salgado (Grebe's syndrome) |
| Short-limbed dwarfism. |
| Paltauf's dwarfism |
| Pituitary dwarf.
|
| 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. |
| Ribbing's disease (Müller-Ribbing-Clément syndrome (Walther Müller)) |
| A rare bone disturbance characterised by stunted stature, obliteration of the hollow bones, and premature degenerative atropathy, in particular of the hip joints. |
| Ribbing-Müller disease (Müller-Ribbing-Clément syndrome (Walther Müller)) |
| A rare bone disturbance characterised by stunted stature, obliteration of the hollow bones, and premature degenerative atropathy, in particular of the hip joints. |
| Riley-Smith syndrome (Bannayan's syndrome) |
| A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation. |
| 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. |
| Robinow's dwarfism (Robinow's syndrome) |
| A syndrome of multiple cogenital anomalies, including foetal-like facies, mesomelic dwarfism, and genital hypoplasia. |
| Robinow's syndrome |
| A syndrome of multiple cogenital anomalies, including foetal-like facies, mesomelic dwarfism, and genital hypoplasia. |
| Robinow-Silverman-Smith syndrome (Robinow's syndrome) |
| A syndrome of multiple cogenital anomalies, including foetal-like facies, mesomelic dwarfism, and genital hypoplasia. |
| Rolland-Desbuquois dysplasia |
| A lethal syndrome of multiple abnormalities, characterized by micromelia, cleft palate, and variable limited mobility of the elbow, wrist, knee, and ankle joints. Symptoms and signs are those of Kniest’s syndrome. |
| Rolland-Desbuquois form of dyssegmental dysplasia (Silverman-Handmaker syndrome (Frederic N. Silverman)) |
| A lethal form of chondrodysplasia characterised by anarchic ossification of vertebrae, camptomelia and micromelia. |
| Rothmund dystrophy (Rothmund-Thomson syndrome) |
| A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects. |
| Rothmund syndrome (Rothmund-Thomson syndrome) |
| A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects. |
| Rothmund-Thomson syndrome |
| A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects. |
| 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. |
| Russell dwarf (Silver-Russell syndrome (Alexander Russell)) |
| A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. |
| Russell nanism (Silver-Russell syndrome (Alexander Russell)) |
| A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. |
| Russell syndrome (Silver-Russell syndrome (Alexander Russell)) |
| A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. |
| Russell-Silver syndrome (Silver-Russell syndrome (Alexander Russell)) |
| A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. |
| Ruvalcaba Myhre-Smith syndrome (Bannayan's syndrome) |
| A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation. |
| Saldino's syndrome (Langer-Saldino syndrome) |
| A lethal form of neonatal dwarfism. |
| Saldino-Noonan-McCreanor syndrome |
| A lethal form of neonatal chondrodystrophy which is characterised by polydactyly and severe short limb dwarfism. |
| Say-Meyer syndrome |
| A familial syndrome of trigonocephaly, short stature, and retarded psychomotor development. |
| 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. |
| Silfverskiöld's syndrome |
| An unusual form of osteochondrodystrophy with skeletal defects. |
| Silver's syndrome (Silver-Russell syndrome (Alexander Russell)) |
| A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. |
| Silver-Russell syndrome (Alexander Russell) |
| A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. |
| Silverman-Handmaker syndrome (Frederic N. Silverman) |
| A lethal form of chondrodysplasia characterised by anarchic ossification of vertebrae, camptomelia and micromelia. |
| Silverman-Handmaker type of dyssegmental dysplasia (Silverman-Handmaker syndrome (Frederic N. Silverman)) |
| A lethal form of chondrodysplasia characterised by anarchic ossification of vertebrae, camptomelia and micromelia. |
| 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-Fineman-Myers syndrome (Richard D. Smith) |
| A rare familial dysmorphy syndrome characterised by short stature, psychomotor retardation, and unusual face. |
| Smith-McCort dwarfism (Dyggve-Melchior-Clausen syndrome) |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Smith-McCort dwarfism (Roy Smith) |
| Dwarfing skeletal dysplasia with features of the Dyggve-Melchior-Clausen syndrome, however, with normal intelligence. |
| Smith-McCort syndrome (Smith-McCort dwarfism (Roy Smith)) |
| Dwarfing skeletal dysplasia with features of the Dyggve-Melchior-Clausen syndrome, however, with normal intelligence. |
| Souques-Charcot syndrome (a variant of this syndrome) (Hutchinson-Gilford disease) |
| A very rare disease of premature aging in young children, characterized mainly by a birdlike, "wizened old man" facial appearance, premature bodily ageing (progeria) and dwarfism. |
| Spranger's syndrome I |
|
| Spranger's syndrome II |
| Galeophysic dwarfism, a term referring to the unusual, pleasant, and happy face which is one of the main characteristics of this syndrome. |
| 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. |
| 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. |
| 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. |
| Thomson-Rothmund syndrome (Rothmund-Thomson syndrome) |
| A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects. |
| 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. |
| Toulouse-Lautrec's disease (Maroteaux-Lamy syndrome III) |
| A congenital disease of bone characterized by short-limbed dwarfism, a large skull with persistent fontanelle, and other anomalies. |
| 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). |
| Watson's syndrome |
| A rare syndrome originally described as comprising pulmonary valvular stenosis, café-au-lait spots, dull intelligence, and short stature. |
| Werner's mesomelic dwarfism (Werner's syndrome) |
| A rare anomaly characterised by short legs due to absence of the tibia bilaterally, polydactyly of hands and feet, absence of thumbs, reduced knee movements. |
| Werner's syndrome |
| A rare anomaly characterised by short legs due to absence of the tibia bilaterally, polydactyly of hands and feet, absence of thumbs, reduced knee movements. |
| Wiedemann-Rautenstrauch syndrome |
| A syndrome characterised by intrauterine growth retardation, low birth weight, failure to thrive, short stature, widely open cranial sutures, a progeria-like appearance, hypotonia, pseudohydrocephalus, lipoatrophy, and mental retardation. |
| Wiedemann-Spranger disease |
| A very rare hereditary form of congenital skeletal dysplasia, of unknown aetiology and mode of transmission, characterized mainly by pseudorachitic long bone metaphyses and micromelic dwarfism. |
| Wiedemann-Spranger metaphyseal chondrodysplasia syndrome (Wiedemann-Spranger disease) |
| A very rare hereditary form of congenital skeletal dysplasia, of unknown aetiology and mode of transmission, characterized mainly by pseudorachitic long bone metaphyses and micromelic dwarfism. |
|
