Thanatophoric dysplasia

DIS: 49




Thanatophoric dysplasia

Definition: Thanatophoric dysplasia is the most common skeletal dysplasia that is lethal in neonatal period and characterized by extreme rhizomelia, and a very narrow thorax, (which leads to respiratory distress and respiratory acidosis), normal trunk length, macrocephalia and polyhydramnios.Thanatophoric dysplasia is an autosomal dominant disorder caused by specific mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene. This gene is located on the short arm of chromosome 4.


Synonyms:
There are no synonyms for this malformative disease.

Category: Monogenic disease

Developmental anomalies

Listed in the disease's profile :


There are no developmental anomalies for this disease.

Observed in MDB cases: (graph view)


There are no developmental anomalies for this disease.
Case records

Associated signaling pathways
Associations Gene: FGFR 3
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            [description] => Thanatophoric dysplasia is the most common skeletal dysplasia that is lethal in neonatal period and characterized by extreme rhizomelia, and a very narrow thorax, (which leads to respiratory distress and respiratory acidosis), normal trunk length, macrocephalia and polyhydramnios.Thanatophoric dysplasia is an autosomal dominant disorder caused by specific mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene. This gene is located on the short arm of chromosome 4. 
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Links

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