Thanatophoric dysplasia (Type I)

SYD: 12




Thanatophoric dysplasia (Type I)

Description: Thanatophoric dysplasia, type I, 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 combination.

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Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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