Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay severe intellectual disability mild hypotonia a short ulna hirsutism of the face and extremities minimal scoliosis and facial dysmorphism notably a tall broad forehead synophrys hypertelorism malar hypoplasia broad nose with thick alae nasi low-set small ears long philtrum thin upper lip and everted lower lip vermilion.

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 June 2024

Newly diagnosed with
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.