Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

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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 May 2024

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Epiphyseal dysplasia-hearing loss-dysmorphism syndrome?

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