Young-Simpson syndrome (Q106075): Difference between revisions
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Esta síndrome é caracterizada pela associação de hipotireoidismo congênito, dismorfismo facial (microcefalia, blefarofimose, nariz bulboso, lábio fino, orelhas de implantação baixa e micrognatia), polidactilia pós-axial e déficit intelectual grave. Menos de 20 casos já foram relatados. Criptorquidia está presente em homens afetados. Alguns pacientes apresentam anomalias cardíacas (comunicação interventricular), hipotonia e atraso de crescimento. Herança autossômica recessiva tem sido sugerida. | |||
| description / en | description / en | ||
This syndrome is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. | |||
Revision as of 12:51, 17 August 2026
This syndrome is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1678403283 |
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| English | Young-Simpson syndrome |
This syndrome is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. |
