Autosomal recessive amelia
Autosomal recessive amelia
Definition
Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.
Also known as Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome — per MONDO