Marfanoid habitus - intellectual deficit, autosomal recessive (Q94198): Difference between revisions
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Hábito marfanoide - déficit intelectual, autossômico recessivo é uma síndrome muito rara de anomalias congênitas múltiplas, descrita em quatro irmãos e caracterizada por déficit intelectual, face plana e algumas manifestações esqueléticas da síndrome de Marfan, como estatura alta, dolicostenomelia, envergadura do braço maior que a altura, aracnodactilia de mãos e pés, pouca gordura subcutânea, hipotonia muscular e déficit intelectual. | |||
| description / en | description / en | ||
Marfanoid habitus intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterised by intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. | |||
Revision as of 09:19, 16 August 2026
Marfanoid habitus intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterised by intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_699821839 |
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| English | Marfanoid habitus - intellectual deficit, autosomal recessive |
Marfanoid habitus intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterised by intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. |
