KLHL7-related Bohring-Opitz-like syndrome

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Synonyms: KLHL7-related BOS-like syndrome

A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome like intrauterine growth retardation facial dysmorphism microcephaly severe feeding difficulties joint contractures intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly synophrys high myopia and cyclic emesis are on the contrary very rarely described.

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 October 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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