Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Synonyms: Epiphyseal dysplasia-deafness-dysmorphism syndrome | Finucane-Kurtz-Scott syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay intellectual disability short stature sensorineural hearing impairment facial dysmorphism (incl. epicanthus broad depressed nasal bridge broad fleshy nasal tip mildly anteverted nares deep nasolabial folds broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs brachydactyly scoliosis dysplastic carpal bones). Patients also present severe behavior disturbances (aggression hyperactivity) as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.
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 April 2024
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Epiphyseal dysplasia-hearing loss-dysmorphism syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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