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 March 2024
Newly diagnosed with
Osteoporosis-oculocutaneous hypopigmentation syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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 brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.