Fetal Akinesia Deformation Sequence

**Semantic type:** Disease or Syndrome

**Definition:** A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes, encoding 43 kDa receptor-associated protein of the synapse and protein Dok-7, respectively.

**Synonyms:** - FADS - Pena-Shokeir syndrome, Type 1