Autosomal recessive amelia

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, amelia, autosomal recessive

1 clinical trial for this condition and its sub-types, 0 tagged with Autosomal recessive amelia itself.