atelosteogenesis type 2

(redirected from atelosteogenesis type II)

atelosteogenesis type 2

An autosomal recessive condition (OMIM:256050) characterised by short limbs, small chest, scoliosis, equinovarus type clubfoot (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory insufficiency shortly after birth due to airway collapse and pulmonary hypoplasia resulting from a small rib cage in utero.

Molecular pathology
Defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation that may play a role in enchondral bone formation, cause atelosteogenesis type 2.