Thanatophoric dysplasia
From Wikipedia, the free encyclopedia
| ICD-10 | Q77.1 |
|---|---|
| OMIM | 187600 |
| DiseasesDB | 29403 |
| eMedicine | ped/2233 |
Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.
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[edit] Symptoms
Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest, small ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
[edit] Subtypes
Infants with type 1 thanatophoric dysplasia also have curved thigh bones and flattened bones of the spine (platyspondyly).
An unusual head shape called craniosynostosis ("cloverleaf skull") is seen with type 2 thanatophoric dysplasia.
[edit] Prognosis
The term thanatophoric is Greek for "death bearing". Infants with this condition are usually stillborn or die shortly after birth from respiratory failure; however, some children have survived into childhood with a lot of medical help. These children are severely mentally handicapped due to a variety of brain abnormalities and have difficulty breathing on their own.
[edit] Incidence/Prevalence
This condition affects about 1 in 60,000 births
[edit] External links
- Overview of condition, Genetics Home Reference at NLM
