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epiphyseal dysplasia-hearing loss-dysmorphism syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:epiphyseal dysplasia-hearing loss-dysmorphism syndrome
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Accession:EFO:MONDO:0015941 term browser browse the term
Definition: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.
Synonyms:exact_synonym: Orphanet:1825;   http://identifiers.org/medgen/1643947;   http://identifiers.org/snomedct/766870005;   http://linkedlifedata.com/resource/umls/id/C4707857
 related_synonym: Finucane Kurtz Scott syndrome;   epiphyseal dysplasia hearing loss dysmorphism
 alt_id: MONDO:0015941
 xref: GARD:2178;   MEDGEN:1643947;   ORDO:1825;   SCTID:766870005;   UMLS:C4707857
 see_also: https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism" xsd:anyURI {source="GARD:0002178

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                  epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0
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