Thanatophoric dysplasia type 2

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Synonyms: Cloverleaf skull-micromelic bone dysplasia syndrome | TD2 | Thanatophoric dwarfism type 2 | Thanatophoric dwarfism-cloverleaf skull syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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