Marfanoid habitus-autosomal recessive intellectual disability syndrome

Definition

Marfanoid habitus-intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal 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.

NIH genetic and rare disease info

• NIH info on Marfanoid habitus-autosomal recessive intellectual disability syndrome

Marfanoid habitus-autosomal recessive intellectual disability syndrome is a rare disease.

Resources

Frequently asked questions

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