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Definition

A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive.

Acronym

FADS1

Synonyms

Arthrogryposis multiplex congenita with pulmonary hypoplasia
FADS
Fetal akinesia deformation sequence
Fetal akinesia sequence
Pena-Shokeir syndrome type 1

 
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