Craniosynostosis-microretrognathia-severe intellectual disability syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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: // Data version September 2023.

Newly diagnosed with
Craniosynostosis-microretrognathia-severe intellectual disability syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.