Delayed membranous cranial ossification

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Synonyms: Gonzales-del Angel syndrome

Delayed membranous cranial ossification is a rare genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing hypertelorism downward-slanting palpebral fissures proptosis flat nasal bridge low-set ears midface retrusion). Patients present a soft skull at birth which over time progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.

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 Data version June 2024

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