Microcephalic primordial dwarfism, Montreal type

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Synonyms: Bird-headed dwarfism, Montreal type

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly narrow face with flat cheeks ptosis prominent nose with a convex ridge low-set ears with small or absent lobes high-arched/cleft palate micrognathia) associated with premature graying and loss of scalp hair redundant dry and wrinkled skin of the palms premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.

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 July 2024

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Microcephalic primordial dwarfism, Montreal type?

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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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