Delayed membranous cranial ossification

Alternate names

Gonzales-del Angel syndrome

Definition

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.

NIH genetic and rare disease info

• NIH info on Delayed membranous cranial ossification

Delayed membranous cranial ossification is a rare disease.

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