Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

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Synonyms: PACS1-related syndrome | Schuurs-Hoeijmakers syndrome

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare genetic syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full arched eyebrows hypertelorism down-slanting palpebral fissures long eyelashes ptosis low-set simple ears bulbous nasal tip flat philtrum wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia seizures cryptorchidism in males and congenital abnormalities including cardiac cerebral or ocular defects may be observed.

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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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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