Thanatophoric dysplasia
Thanatophoric dysplasia | |
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Radiogram of a baby born with thanatophoric dwarfism | |
Specialty | Medical genetics |
Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.
Symptoms and signs
Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow
and prominent, wide-spaced eyes. Thanatophoric dysplasia is a lethal skeletalCauses
It can be associated with missense mutations in
While the condition can be inherited, most cases of thanatophoric dysplasia are caused by new mutations in people with no family history of the disorder. No individual with thanatophoric dysplasia is known to have had children, so the disorder has not been observed to have been passed down to the next generation. Thanatophoric dysplasia occurs in 1 in 20,000 to 50,000 newborns, and type I thanatophoric dysplasia is more common than type II thanatophoric dysplasia.[4]
Diagnosis
Classification
Infants with type 1 thanatophoric dysplasia also have curved thigh bones, flattened bones of the spine (platyspondyly) and shortened thoracic ribs. Note: Prenatal ultra-sound images of the ribs sometimes appear asymmetrical when in fact they are not. In certain cases, this has caused a misdiagnosis of osteogenesis imperfecta (OI) type II.[citation needed]
An unusual head shape called kleeblattschaedel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia.[5]
Prognosis
The term thanatophoric is
Incidence
This condition affects about 1 in 60,000 births.[9][failed verification]
References
- ^ Norris, Cheryl D.; George Tiller; Philippe Jeanty; Srini Malini (2008-12-12). "Thanatophoric dysplasia in monozygotic twins". TheFetus.net. Archived from the original on December 12, 2008. Retrieved 2016-03-01.
- PMID 17509076.
- PMID 12624096.
- ^ "Thanatophoric dysplasia". MedlinePlus. Retrieved 26 February 2023.
- PMID 1345514.
- PMID 25356217.
- PMID 9182787.
- ^ "New Scholarship Helps Adelphi Students Who Face the Biggest Challenges". Adelphi University. 6 August 2019. Retrieved 1 February 2021.
- S2CID 43581040.
External links
- GeneReview/NCBI/NIH/UW entry on Thanatophoric Dysplasia
- Thanatophoric dysplasia at NLMGenetics Home Reference