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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome
exact