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ALLMedicine™ Atelosteogenesis Type 2 Center

Research & Reviews  3 results

Atelosteogenesis type 2

Dec 17th, 2013 - Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis...

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese popu...
Clinical Genetics; Barbosa M, Sousa AB et. al.

Dec 16th, 2010 - SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epip...

atelosteogenesis type ii (Concept Id: C1850554) - MedGen - NCBI

Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal b...

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