Microcephaly-short stature-limb abnormalities syndrome

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Synonyms: MISSLA

A rare genetic multiple congenital anomalies syndrome characterized by severe microcephaly intrauterine growth retardation short stature and variable limb anomalies such as radial ray defects short limbs absent/hypoplastic patellae syndactyly brachydactyly and hypoplastic carpal or metacarpal bones. Craniofacial dysmorphism is characterized by long and broad nose microstomia and micrognathia. Intellectual disability is mild when present. Cases with extremely severe phenotype with very short limbs and poor lung development are perinatally lethal.

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 June 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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