| Eponyms in category: Malformation - dysmorphy |
| 53
main and alternative
entries found.
|
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| Aicardi's syndrome |
| Characteristic malformation syndrome which appear in females only (males - intrauterine death), with progrediating psychomotor deterioration. |
| Arkless-Graham syndrome |
| Congenital malformation syndrome with shortening of the knuckles of the legs and hands, mental retardation, and peculiar facies. |
| 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. |
| 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.
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| Brachmann-de Lange syndrome |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
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| 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. |
| Christian-Opitz syndrome (Opitz' BBB syndrome) |
| A dysmorphy syndrome in which males have hypospadias of variable degree and hypertelorism, whereas females carriers display only telecanthus. |
| 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.
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| de Lange’s syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
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| Eisenmenger's complex (Victor Eisenmenger) |
| A congenital heart defect with an abnormal connection between system circulation and lung circulation. |
| Eisenmenger’s defect, (Eisenmenger's complex (Victor Eisenmenger)) |
| A congenital heart defect with an abnormal connection between system circulation and lung circulation. |
| Eisenmenger’s disease (Eisenmenger's complex (Victor Eisenmenger)) |
| A congenital heart defect with an abnormal connection between system circulation and lung circulation. |
| Eisenmenger’s syndrome (Eisenmenger's complex (Victor Eisenmenger)) |
| A congenital heart defect with an abnormal connection between system circulation and lung circulation. |
| Eisenmenger’s tetralogy (Eisenmenger's complex (Victor Eisenmenger)) |
| A congenital heart defect with an abnormal connection between system circulation and lung circulation. |
| 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. |
| Gardner-Silengo-Wachtel syndrome |
| Distinct dysmorphy syndrome with male pseudohermaphroditismus, multiple malformations and poor prospects of survival. |
| Hall-Pallister syndrome |
| Distinct malformation with hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and postaxial polydactyly. |
| Kaufman syndrome (McKusick-Kaufman syndrome) |
| Distinct dysmorphy malformation syndrome in newborn with congenital hydrometrocolpos, respiratory embarrassment; urinary, intestinal, circulatory obstruction, congenital heart defect and postaxial polydactyly. |
| Kaufman's syndrome I |
| A non-genetic syndrome characterised by a large number of congenital malformations. |
| Kaufman-McKusick syndrome (McKusick-Kaufman syndrome) |
| Distinct dysmorphy malformation syndrome in newborn with congenital hydrometrocolpos, respiratory embarrassment; urinary, intestinal, circulatory obstruction, congenital heart defect and postaxial polydactyly. |
| Keller’s syndrome (Opitz-Kaveggia syndrome) |
| Distinct disease picture with mental retardation, short stature, joint contractures, muscular hypotony, imperforate or displaced anus, macrocephaly, and characteristic facial dysmorphy, etc. |
| Kraepelin's syndrome |
| Traumatic hypochondria. A no longer used term for an acute psychogenic languish as a consequence of massive psychosocial stress.
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| Kraepelin’s anxiety neurosis (Kraepelin's syndrome) |
| Traumatic hypochondria. A no longer used term for an acute psychogenic languish as a consequence of massive psychosocial stress.
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| Lenz' syndrome (Wiedemann's dysmelia syndrome) |
| An embryopathic malformation syndrome occurring in newborns of mothers who took thalidomide during pregnancy. |
| Maroteaux-Malamut syndrome (Arkless-Graham syndrome) |
| Congenital malformation syndrome with shortening of the knuckles of the legs and hands, mental retardation, and peculiar facies. |
| McKusick-Dungy-Kaufman syndrome (McKusick-Kaufman syndrome) |
| Distinct dysmorphy malformation syndrome in newborn with congenital hydrometrocolpos, respiratory embarrassment; urinary, intestinal, circulatory obstruction, congenital heart defect and postaxial polydactyly. |
| McKusick-Kaufman syndrome |
| Distinct dysmorphy malformation syndrome in newborn with congenital hydrometrocolpos, respiratory embarrassment; urinary, intestinal, circulatory obstruction, congenital heart defect and postaxial polydactyly. |
| Neuhäuser's MMR syndrome |
| Inheritable malformation-retardation syndrome with enlarged corneas, other eye anomalies, craniofacial dysmorphy and cerebral attacks. |
| Opitz' BBB syndrome |
| A dysmorphy syndrome in which males have hypospadias of variable degree and hypertelorism, whereas females carriers display only telecanthus. |
| Opitz' N syndrome |
| Inheritable malformation-retardation syndrome with impaired hearing, visual disturbances, cryptorchism, hypospadia and tetraspastic. |
| Opitz' trigonocephaly syndrome |
| A dysmorphy syndrome with trigonocephaly as the most
conspiccuous feature. |
| Opitz-Christian Syndrome (Opitz' BBB syndrome) |
| A dysmorphy syndrome in which males have hypospadias of variable degree and hypertelorism, whereas females carriers display only telecanthus. |
| Opitz-Frias syndrome |
| A congenital dysmorphy syndrome of characteristic facies, hypertelorism, hypospadias and dysphagia and oesophageal defect with swallowing difficulty. |
| Opitz-Johnson-McCreadie-Smith syndrome (Opitz' trigonocephaly syndrome) |
| A dysmorphy syndrome with trigonocephaly as the most
conspiccuous feature. |
| Opitz-Kaveggia syndrome |
| Distinct disease picture with mental retardation, short stature, joint contractures, muscular hypotony, imperforate or displaced anus, macrocephaly, and characteristic facial dysmorphy, etc. |
| Opitz-Trigozephalie-Syndrom (German) (Opitz' trigonocephaly syndrome) |
| A dysmorphy syndrome with trigonocephaly as the most
conspiccuous feature. |
| Opitz’ syndrome (Opitz' BBB syndrome) |
| A dysmorphy syndrome in which males have hypospadias of variable degree and hypertelorism, whereas females carriers display only telecanthus. |
| Pallister-Hall syndrome (Hall-Pallister syndrome) |
| Distinct malformation with hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and postaxial polydactyly. |
| Reynolds' syndrome (Reynolds-Neri-Herrmann syndrome (James F. Reynolds)) |
| A dysmorphy syndrome of unknown aetiology. |
| Reynolds-Neri-Herrmann syndrome (James F. Reynolds) |
| A dysmorphy syndrome of unknown aetiology. |
| 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. |
| Say-Gerald syndrome (Kaufman's syndrome I) |
| A non-genetic syndrome characterised by a large number of congenital malformations. |
| Schinzel-Giedion syndrome |
| A distinct dysmorphy syndrome of congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation. |
| 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-Lemli-Opitz syndrome type III (Gardner-Silengo-Wachtel syndrome) |
| Distinct dysmorphy syndrome with male pseudohermaphroditismus, multiple malformations and poor prospects of survival. |
| 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. |
| 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. |
| Wiedemann's dysmelia syndrome |
| An embryopathic malformation syndrome occurring in newborns of mothers who took thalidomide during pregnancy. |
| Wiedemann's syndrome I (Wiedemann's dysmelia syndrome) |
| An embryopathic malformation syndrome occurring in newborns of mothers who took thalidomide during pregnancy. |
| Wiedemann-Lenz syndrome (Wiedemann's dysmelia syndrome) |
| An embryopathic malformation syndrome occurring in newborns of mothers who took thalidomide during pregnancy. |
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