Craniosynostosis-microretrognathia-severe intellectual disability syndrome

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Craniosynostosis-microretrognathia-severe intellectual disability syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay moderate to severe intellectual disability dysmorphic features including craniosynostosis micro-/retrognathia cleft palate and brachydactyly and short stature. Seizures skeletal anomalies (such as arthrogryposis gracile bones and pathological fractures) and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.

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 September 2023.

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