Thanatophoric dysplasia type 1

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Thanatophoric dysplasia type 1

Synonyms: TD1 | Thanatophoric dwarfism type 1

A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5% bowed femurs (like a telephone receiver) shortened ribs and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally distinctive facial features include macrocephaly large anterior fontanel frontal bossing midface hypoplasia proptosis and low nasal bridge. 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 October 2023.

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Thanatophoric dysplasia type 1?

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