Osteoporosis-oculocutaneous hypopigmentation syndrome
Synonyms: Hernández-Fragoso syndrome | OOCHS
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation visual impairment generalized osteoporosis with skeletal anomalies such as short stature short neck and trunk kyphosis scoliosis and platyspondyly and dysmorphic facial features (including long philtrum small mouth micrognathia and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.
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 December 2023
Newly diagnosed with
Osteoporosis-oculocutaneous hypopigmentation syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Clinical Trials
For a list of clinical trials in this disease area, please click here.