| Eponyms in category: Multiple congenital anomalies |
| 189
main and alternative
entries found.
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| Aase-Smith syndrome |
| A familial deformity syndrome. |
| Aase’s syndrome (Aase-Smith syndrome) |
| A familial deformity syndrome. |
| Alè-Calò syndrome (Langer-Giedion syndrome) |
| Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. |
| Alfi's syndrome |
| A very rare chromosome anomaly also known as monosomy 9P. |
| Aniridia-Wilms' tumor association (Brusa-Torricelli syndrome) |
| A congenital syndrome in which aniridia and nephroblastoma (Wilms' tumour) is associated with multiple abnormalities. |
| Aniridia-Wilms’ tumour syndrome (Brusa-Torricelli syndrome) |
| A congenital syndrome in which aniridia and nephroblastoma (Wilms' tumour) is associated with multiple abnormalities. |
| Appelt-Gerken-Lenz syndrome (Roberts' pseudothalidomide syndrome) |
| A syndrome of multiple congenital abnormalities. |
| Audry’s syndrome I (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| Bamberger's disease (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Bamberger-Marie disease |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Bamberger-Pierre Marie syndrome (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Banki's syndrome |
| A syndrome of lunate and cuneiform bone fusion, clinodactyly, clinometacarpy, brachymetacarpy, and leptometacarpy. |
| Barr-Shaver-Carr syndrome |
| A chromosome XXXX syndrome with mental deficiency and variable abnormalities. |
| 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. |
| Brusa-Torricelli syndrome |
| A congenital syndrome in which aniridia and nephroblastoma (Wilms' tumour) is associated with multiple abnormalities. |
| Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome (Gorlin's syndrome II) |
| Rare inheritable syndrome characterised by lentigenes, electriocardiographic conduction abnormalities, ocular hypertelorismus, pulmonary stenosis, abnormal genitalia, retardation of growth with dwarfism, and sensorineural deafness. |
| Carr-Barr-Plunkett syndrome |
| A chromosome XXXX syndrome with mental deficiency and variable abnormalities. |
| Cenani's syndactyly (Cenani-Lenz syndactyly) |
| An association of syndactyly of bone, mesomelic brachymelia and normal intelligence. Inheritance is autosomal recessive.
|
| Cenani-Lenz oligodactyly-synostosis syndrome (Cenani-Lenz syndactyly) |
| An association of syndactyly of bone, mesomelic brachymelia and normal intelligence. Inheritance is autosomal recessive.
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| Cenani-Lenz syndactylism (Cenani-Lenz syndactyly) |
| An association of syndactyly of bone, mesomelic brachymelia and normal intelligence. Inheritance is autosomal recessive.
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| Cenani-Lenz syndactyly |
| An association of syndactyly of bone, mesomelic brachymelia and normal intelligence. Inheritance is autosomal recessive.
|
| Champion-Cregan-Klein syndrome (Trélat's syndrome) |
| A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities. |
| Chatelain's syndrome (Trauner-Rieger syndrome) |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
| Curry-Hall syndrome (Weyers' syndrome II) |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Curtius' syndrome I |
| An obsolete term for a form of hypertrophy of a part of the body with various associated disorders. |
| Cushing's symphalangism |
| A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds. |
| de Morsier's syndrome I |
| Diencephalic lesions appearing in first decade of life associated with a variety of behavioural, psychomotor, and sensory disorders, as well as all signs of precocious sexual development. |
| de Morsier's syndrome III |
| Trias of dwarfism, nystagmus, and micropupil. |
| de Morsier’s syndrome II (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| 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. |
| Fairbank's syndrome II |
| A syndrome in which short stature is associated with multiple other abnormalities of the skeleton. |
| Familial Turner syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Female pseudo Turner syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Feuerstein-Mims syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Fong's syndrome (Trauner-Rieger syndrome) |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
| François syndrome II (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| François' syndrome (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| François' syndrome II |
| A familial syndrome, characterized by corneal dystrophy with minute punctate opacities in all layers, and osteochondral dystrophy of the extremities. |
| Fraser's syndrome |
| An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, urogenital malformations, syndactyly, decreased number of digits and bilateral or unilateral renal dysplasia. |
| Fraser-François syndrome (Fraser's syndrome) |
| An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, urogenital malformations, syndactyly, decreased number of digits and bilateral or unilateral renal dysplasia. |
| Fremerey-Dohna syndrome (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| Friedreich's disease (Curtius' syndrome I) |
| An obsolete term for a form of hypertrophy of a part of the body with various associated disorders. |
| Friedreich's syndrome (Curtius' syndrome I) |
| An obsolete term for a form of hypertrophy of a part of the body with various associated disorders. |
| Friedreich-Auerbach disease (Curtius' syndrome I) |
| An obsolete term for a form of hypertrophy of a part of the body with various associated disorders. |
| 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. |
| Golabi-Rosen syndrome (Simpson's syndrome (Joe Leigh Simpson)) |
| A familial syndrome of pre- and postnatal gigantism characterized by coarse, bulldog-like faces and multiple abnormalities. |
| Goldenhar's syndrome |
| A syndrome of dermoid cysts, auricular appendices, asymmetrical malformations of the face, and vertebral abnormalities. |
| Goldenhar-Gorlin syndrome (Goldenhar's syndrome) |
| A syndrome of dermoid cysts, auricular appendices, asymmetrical malformations of the face, and vertebral abnormalities. |
| Gorlin's syndrome II |
| Rare inheritable syndrome characterised by lentigenes, electriocardiographic conduction abnormalities, ocular hypertelorismus, pulmonary stenosis, abnormal genitalia, retardation of growth with dwarfism, and sensorineural deafness. |
| Gorlin-Pindborg syndrome (Trélat's syndrome) |
| A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities. |
| 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. |
| Greig's syndrome I |
| A syndrome affecting the development of the skull, face, and limbs |
| Greig’s cephalosyndactyly (GCPS) syndrome (Greig's syndrome I) |
| A syndrome affecting the development of the skull, face, and limbs |
| Hagner's syndrome (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Hallermann-Streiff syndrome (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| Hallermann-Streiff-François syndrome |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| Hallermann’s syndrome (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| Hecht-Jarvinen syndrome (Trélat's syndrome) |
| A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities. |
| Hecht-Scott syndrome (Jacqueline T. Hecht) |
| A syndrome characterised by terminal transverse defects of the limbs associated with congenital heart malformations. |
| Hootnick-Holmes syndrome (Greig's syndrome I) |
| A syndrome affecting the development of the skull, face, and limbs |
| Hoyt-Kaplan-Grumbach syndrome (de Morsier's syndrome III) |
| Trias of dwarfism, nystagmus, and micropupil. |
| 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. |
| Insley-Astley syndrome (Weissenbacher-Zweymüller syndrome I) |
| Congenital syndrome characterized by sensorineural deafness, short limbs, and abnormal thickness of the joints, especially of the knees and elbows (dumbbell-shaped femora and humeri). |
| Jadassohn's nevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Jensen’s syndrome (François' syndrome II) |
| A familial syndrome, characterized by corneal dystrophy with minute punctate opacities in all layers, and osteochondral dystrophy of the extremities. |
| Jules François' syndrome (François' syndrome II) |
| A familial syndrome, characterized by corneal dystrophy with minute punctate opacities in all layers, and osteochondral dystrophy of the extremities. |
| Kallmann's syndrome |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Kallmann-de Morsier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Killian-Pallister syndrome (Wolfgang Killian) (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Killian’s syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Klingmüller’s syndrome (Langer-Giedion syndrome) |
| Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. |
| Kopits-Matolcsy syndrome (Trélat's syndrome) |
| A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities. |
| Langer-Giedion syndrome |
| Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. |
| Leopard skin syndrome (Gorlin's syndrome II) |
| Rare inheritable syndrome characterised by lentigenes, electriocardiographic conduction abnormalities, ocular hypertelorismus, pulmonary stenosis, abnormal genitalia, retardation of growth with dwarfism, and sensorineural deafness. |
| LEOPARD syndrome (Gorlin's syndrome II) |
| Rare inheritable syndrome characterised by lentigenes, electriocardiographic conduction abnormalities, ocular hypertelorismus, pulmonary stenosis, abnormal genitalia, retardation of growth with dwarfism, and sensorineural deafness. |
| Lesch-Nyhan syndrome or disease |
| A syndrome characterised by mental retardation, severely impaired growth, tendency to self mutilation, dislocation of eyes and extrapyramidal signs. |
| Maestre de San Juan-Kallmann syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Maestre de San Juan-Kallmann-de Morsier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Maestre-Kallmann-de Morsier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Male Turner syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Mankowsky’s disease (misnomer) (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Marchesani's syndrome (Weill-Marchesani syndrome) |
| A hereditary disorder of connective tissue characterized by short and stocky stature with well developed muscles, brachydactyly, broad skull, short fingers and toes, stiff immobile joints, and other anomalies. |
| Marie-Bamberger disease (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Marshall-Smith syndrome (probably misnomer) (Greig's syndrome I) |
| A syndrome affecting the development of the skull, face, and limbs |
| Melnick-Needles syndrome |
| A very rare syndrome of generalised bone dysplasia with stunted stature, and multiple craniofacial abnormalities. |
| Meyer-Schwickerath's syndrome (Fraser's syndrome) |
| An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, urogenital malformations, syndactyly, decreased number of digits and bilateral or unilateral renal dysplasia. |
| Miller's syndrome (Weyers' syndrome II) |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Miller’s syndrome (Robert W. Miller) (Brusa-Torricelli syndrome) |
| A congenital syndrome in which aniridia and nephroblastoma (Wilms' tumour) is associated with multiple abnormalities. |
| Morsier-Gauthier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Moynahan syndrome (Gorlin's syndrome II) |
| Rare inheritable syndrome characterised by lentigenes, electriocardiographic conduction abnormalities, ocular hypertelorismus, pulmonary stenosis, abnormal genitalia, retardation of growth with dwarfism, and sensorineural deafness. |
| Nager acrofacial dysostosis (Nager-de Reynier syndrome) |
| A rare syndrome combining the features of mandibulofacial dysostosis with limb abnormalities and other defects. |
| Nager anomaly (Nager-de Reynier syndrome) |
| A rare syndrome combining the features of mandibulofacial dysostosis with limb abnormalities and other defects. |
| Nager syndrome (Nager-de Reynier syndrome) |
| A rare syndrome combining the features of mandibulofacial dysostosis with limb abnormalities and other defects. |
| Nager-De Reynier syndrome (Weyers' syndrome II) |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Nager-de Reynier syndrome |
| A rare syndrome combining the features of mandibulofacial dysostosis with limb abnormalities and other defects. |
| Nevo's syndrome (Sotos' syndrome) |
| A syndrome of excessive growth during the first 4 to 5 years of life, cerebral gigantism, acromegalic features, and mild mental retardation and defective coordination. |
| Niikawa-Kuroki syndrome |
| A syndrome of stunted stature, mental retardation and a characteristic facial appearance. |
| Nonlethal achondrogenesis Quelce-Salgado (Grebe's syndrome) |
| Short-limbed dwarfism. |
| Noonan's syndrome |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Nyhan’s syndrome (Lesch-Nyhan syndrome or disease) |
| A syndrome characterised by mental retardation, severely impaired growth, tendency to self mutilation, dislocation of eyes and extrapyramidal signs. |
| Orbeli's syndrome (Dimitrij J. Orbeli) |
| Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities. |
| Pallister's mosaicism syndrome |
| A multiple anomaly/mental retardation syndrome. |
| Pallister's syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pallister's syndrome |
| A syndrome of abnormal development of the ulna, forearms, mammary glands, axillary apocrine glands, teeth, palate, vertebrae, and urogenital system. |
| Pallister's tetrasomy syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pallister-Killian syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pallister-Teschler-Nicola and Killian syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pierre Marie's syndrome (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Pindborg's tumour (Trélat's syndrome) |
| A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities. |
| Pseudo Turner syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Pseudo Ullrich-Turner syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Roberts' pseudothalidomide syndrome |
| A syndrome of multiple congenital abnormalities. |
| Roberts' syndrome (Roberts' pseudothalidomide syndrome) |
| A syndrome of multiple congenital abnormalities. |
| 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. |
| Robinow-Sorauf syndrome |
| A syndrome of facies like those of the Sæthre-Chotzen syndrome and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. |
| 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. |
| 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. |
| Sakati's syndrome (Sakati-Nyhan-Tisdale syndrome) |
| A syndrome of multiple abnormalities noted at birth involving the head, limbs, heart, ears, and skin. |
| Sakati-Nyhan-Tisdale syndrome |
| A syndrome of multiple abnormalities noted at birth involving the head, limbs, heart, ears, and skin. |
| Schimmelpenning-Feuerstein-Mims syndrome |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Schimmelpenning’s syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Schinzel-Giedion syndrome |
| A distinct dysmorphy syndrome of congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation. |
| 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. |
| Simpson's dysmorphia syndrome (Simpson's syndrome (Joe Leigh Simpson)) |
| A familial syndrome of pre- and postnatal gigantism characterized by coarse, bulldog-like faces and multiple abnormalities. |
| Simpson's dysplasia syndrome (Simpson's syndrome (Joe Leigh Simpson)) |
| A familial syndrome of pre- and postnatal gigantism characterized by coarse, bulldog-like faces and multiple abnormalities. |
| Simpson's syndrome (Joe Leigh Simpson) |
| A familial syndrome of pre- and postnatal gigantism characterized by coarse, bulldog-like faces and multiple abnormalities. |
| Simpson-Golabi-Behmel syndrome (Simpson's syndrome (Joe Leigh Simpson)) |
| A familial syndrome of pre- and postnatal gigantism characterized by coarse, bulldog-like faces and multiple abnormalities. |
| 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-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. |
| Solomon's syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Solomon-Fretzin-Dewald syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Sotos' sequence (Sotos' syndrome) |
| A syndrome of excessive growth during the first 4 to 5 years of life, cerebral gigantism, acromegalic features, and mild mental retardation and defective coordination. |
| Sotos' syndrome |
| A syndrome of excessive growth during the first 4 to 5 years of life, cerebral gigantism, acromegalic features, and mild mental retardation and defective coordination. |
| 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. |
| Steiner's syndrome (Curtius' syndrome I) |
| An obsolete term for a form of hypertrophy of a part of the body with various associated disorders. |
| Strasburger-Hawkins-Eldridge syndrome (Cushing's symphalangism) |
| A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds. |
| Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome (Cushing's symphalangism) |
| A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds. |
| Teschler-Nicola and Killian syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Teschler-Nicola and Killian-Pallister syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Teschler-Nicola syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Teschler-Nicola's syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Touraine's syndrome II (misnomer) (Trauner-Rieger syndrome) |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
| Trauner-Rieger syndrome |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
| Treacher Collins' syndrome (Weyers' syndrome II) |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Trélat's syndrome |
| A complex, heritable malformation syndrome of variable phenotype, mainly characterised by orofacial, genital, and musculoskeletal abnormalities. |
| Turner phenotype syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Turner's phenotype with normal karotype (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Turner's syndrome (Trauner-Rieger syndrome) |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
| Turner's syndrome in female with X-chromosome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Turner-Kieser syndrome (Trauner-Rieger syndrome) |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
| Turner-like syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Ullrich and Fremerey=Dohna syndrome (Hallermann-Streiff-François syndrome) |
| A syndrome of multiple congenital abnormalities comprising an abnormally shaped skull, proportionate dwarfism, birdlike facies, atrophy of the skin, bilateral microphtalmia, mental retardation and congenital cataracts. |
| Ullrich-Feichtiger syndrome (Fraser's syndrome) |
| An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, urogenital malformations, syndactyly, decreased number of digits and bilateral or unilateral renal dysplasia. |
| Ullrich-Noonan syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Vessel’s syndrome (Cushing's symphalangism) |
| A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds. |
| von Bamberger’s disease (Bamberger-Marie disease) |
| A syndrome characterised by clubbing of the fingers and toes, periosteal new bone growth mainly,
frequent evidence of joint involvement, and marked vasomotor disturbances involving hands and feet. |
| Weill-Marchesani syndrome |
| A hereditary disorder of connective tissue characterized by short and stocky stature with well developed muscles, brachydactyly, broad skull, short fingers and toes, stiff immobile joints, and other anomalies. |
| Weissenbacher-Zweymüller syndrome I |
| Congenital syndrome characterized by sensorineural deafness, short limbs, and abnormal thickness of the joints, especially of the knees and elbows (dumbbell-shaped femora and humeri). |
| Weyers' acrodysplasia (Weyers' syndrome II) |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Weyers' syndrome I |
| A congenital malformation syndrome with partial or complete atresia of several parts of the gastrointestinal system as well as displacement of the biliary ducts and displacement and obstruction of the adjoining vessels. |
| Weyers' syndrome II (Weyers' syndrome IV) |
| A congenital syndrome of abnormalities of the iris
microdontia, oligodontia, enamel hypoplasia, and virilisation. Later, dwarfism and myotonic dystrophy become evident. |
| Weyers' syndrome II |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Weyers' syndrome III (Weyers' syndrome II) |
| A syndrome of multiple anomalies of hands, feet, and face, and mild shortness of stature. |
| Weyers' syndrome IV |
| A congenital syndrome of abnormalities of the iris
microdontia, oligodontia, enamel hypoplasia, and virilisation. Later, dwarfism and myotonic dystrophy become evident. |
| Weyers-Fülling syndrome |
| An ectodermal dysplasia combining multiple oculodentofacial abnormalities due to unknown embryonal damage. |
| Weyers-Thier syndrome |
| A symptom complex in the same group as Goldehaar syndrome, Aicardi's syndrome and Jarcho-Levin spondylocostal dysplasia. |
| 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. |
| XX Turner phenotype syndrome (Noonan's syndrome) |
| A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. |
| Österreicher-Fong syndrome (Trauner-Rieger syndrome) |
| A hereditary syndrome characterized by several congenital anomalies that occur together irregularly. |
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