Weill-Marchesani Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive subtype of Weill-Marchesani Syndrome caused by mutations in the ADAMTS10 gene, encoding a disintegrin and metalloproteinase with thrombospondin motifs 10.

**Synonyms:** - Congenital Mesodermal Dysmorphodystrophy - Spherophakia-Brachymorphia Syndrome - Spherophakia-brachymorphia syndrome - Weill-Marchesani, Autosomal Recessive