Thanatophoric dysplasia type 2
ORPHA:93274· ICD-10 Q77.1
Definition
A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal