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Hypochondrogenesis Causes

Hypochondrogenesis is caused by mutations in the gene known as COL2A1. This gene produces type II collage, a molecule essential in the formation and development of bones and other connective tissues.

Hypochondrogenesis Definition

Hypochondrogenesis is a disease characterized by bone growth malformations. Though it is severe, Hypochondrogenesis is considered milder than achondrogenesis type 2 which is another skeletal disorder.

Hypochondrogenesis Diagnosis

The diagnosis of this condition is usually made through ultrasound. To confirm the diagnosis, biopsies, x rays and DNA testing is usually performed. Infants with hypochondrogenesis have short legs and arms and underdeveloped lungs encased in a small chest with short ribs. Their bones particularly in the spine, neck and pelvis are soft. Their faces are flat and oval and excess fluid may build up in their abdomen causing it to enlarge spondyloepiphyseal dysplasia congenital, a condition characterized by abnormal bone growth. Because patients with this disease usually do not live long enough to have children, the genetic disorder is not passed on to the next generation.

Hypochondrogenesis Symptoms and Signs

Individuals with this genetic disorder have abnormal bone formations in the spine and pelvis and have short limbs.

Hypochondrogenesis Treatment

There is no known treatment for hypochondrogenesis. If the condition is detected during pregnancy, parents are given the option to terminate the pregnancy. If the detected at birth, parents can discuss management of birth with a neonatologist. Decisions are usually made after thorough counseling.

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