Thanatophoric dysplasia
From Wikipedia, the free encyclopedia
| Thanatophoric dysplasia Classification and external resources |
|
| ICD-10 | Q77.1 |
|---|---|
| OMIM | 187600 |
| DiseasesDB | 29403 |
| eMedicine | ped/2233 |
| MeSH | D013796 |
Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.
Contents |
[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] Causes
It can be associated with missense mutations in fibroblast growth factor receptor-3.[1][2]
[edit] Classification
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.[3]
[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 significant 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.[4]
[edit] References
- ^ Bonaventure J, Gibbs L, Horne WC, Baron R (2007). "The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor". FEBS J. 274 (12): 3078–93. doi:. PMID 17509076.
- ^ Lievens PM, Liboi E (2003). "The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum". J. Biol. Chem. 278 (19): 17344–9. doi:. PMID 12624096.
- ^ Norman AM, Rimmer S, Landy S, Donnai D (1992). "Thanatophoric dysplasia of the straight-bone type (type 2)". Clin. Dysmorphol. 1 (2): 115–20. doi:. PMID 1345514.
- ^ Vajo Z, Francomano CA, Wilkin DJ (2000). "The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23–39. doi:. PMID 10696568.
[edit] External links
- Overview of condition at NLM Genetics Home Reference
