syndromic intellectual disability syndromic disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability epiphyseal dysplasia-hearing loss-dysmorphism syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism https://www.malacards.org/card/epiphyseal_dysplasia_hearing_loss_dysmorphism_syndrome Finucane-Kurtz-Scott syndrome Finucane Kurtz Scott syndrome MONDO:0015941 MEDGEN:1643947 GARD:0002178 epiphyseal dysplasia hearing loss dysmorphism 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. SCTID:766870005 UMLS:C4707857 Orphanet:1825