Hallermann-Streiff-like syndrome

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Synonyms: Dennis-Fairhurst-Moore syndrome | Hallermann-Streiff-François syndrome, severe form | Severe Hallermann-Streiff-François syndrome

A rare genetic bone development disorder characterized by multiple congenital fractures slender ribs and long bones deficient ossification of the skull and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw deep-set eyes beaked narrow nose downturned mouth and posteriorly angulated ears). Bilateral microphthalmia cataracts and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.

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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