Atelosteogenesis type 2
Other Names for this Disease
- Atelosteogenesis type II
- De la Chapelle dysplasia
- Neonatal osseous dysplasia 1
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 type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Atelosteogenesis type 2 causes serious health problems and infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.
Last updated: 12/17/2013
- Genetics Home Reference. Atelosteogenesis type 2. http://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2. Accessed 12/17/2013.
- Genetics Home Reference (GHR) contains information on Atelosteogenesis type 2. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Atelosteogenesis type 2. Click on the link to view a sample search on this topic.