Fryns-Smeets-Thiry syndrome

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Fryns-Smeets-Thiry syndrome

A rare genetic syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability associated with marfanoid habitus joint laxity bilateral hip luxation hypotonia scoliosis and characteristic facial dysmorphism (i.e. high nasal bridge sharp nose short philtrum large mouth full lips and maxillary hypoplasia). There have been no further description in the literature since 1994.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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