Short stature-wormian bones-dextrocardia syndrome

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Synonyms: Stratton-Parker syndrome

A multiple congenital anomalies syndrome characterized by wormian bones dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly kidney hypoplasia bilateral cryptorchidism midshaft hypospadias imperforate anus/anorectal agenesis body asymmetry mild developmental delay hemimegalencephaly and facial dysmorphism (hypotelorism downslanting palpebral fissures low-set and posteriorly angulated ears depressed nasal bridge and microstomia).

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 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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