Catalog

Marfanoid habitus - intellectual deficit, autosomal recessive

No MMS code

Link to WHO Definition

Marfanoid habitus - intellectual deficit, autosomal recessive – http://id.who.int/icd/entity/699821839

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.