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| Thanatophoric dysplasia Classification and external resources |
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| ICD-10 | Q77.1 |
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| 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.
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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.
Causes
It can be associated with missense mutations in fibroblast growth factor receptor-3.[1][2]
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]
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.
Incidence/Prevalence
This condition affects about 1 in 60,000 births.[4]
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, <http://edrv.endojournals.org/cgi/pmidlookup?view=long&pmid=10696568>
External links
- Overview of condition at NLM Genetics Home Reference
