Hypochondrogenesis
 | This article needs more primary sources. (November 2016) |  |
| Hypochondrogenesis | |
|---|---|
| Specialty | Medical genetics |
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth.[1] The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
Hypochondrogenesis is a subtype of collagenopathy, types II and XI, and is similar to another skeletal disorder, achondrogenesis type 2, although the spinal changes seen in hypochondrogenesis tend to be somewhat milder.
Signs and symptoms
Symptoms of hypochondrogenesis include:
Pathophysiology
Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the
This condition is caused by new mutations in the
Diagnosis
Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped
As a result of these serious health problems, infants are usually premature and stillborn or die shortly after birth from respiratory failure. Some infants have lived for a time, however, with intensive medical support. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related disorder on the spectrum of abnormal bone growth.
Treatment
There is no cure or treatment for hypochondrogenesis.[3]
References
- ^ "Hypochondrogenesis: MedlinePlus Genetics". medlineplus.gov. Retrieved 9 September 2021.
- ^ "Hypochondrogenesis". Rare Disease InfoHub. Retrieved 16 June 2022.
- ^ "Hypochondrogenesis". Encyclopedia.com. Retrieved 16 June 2022.
External links
This article incorporates public domain text from The U.S. National Library of Medicine