/autosomal recessive amelia

autosomal recessive amelia

Rare Disease

MONDO:0011054

Also Known As

Amelia, posterior, with pelvic and pulmonary hypoplasia syndromeamelia, autosomal recessive

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.