Epiphyseal dysplasia of femoral head, myopia, and deafness

Preferred Label : Epiphyseal dysplasia of femoral head, myopia, and deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In 3 sons of third-cousin parents, Pfeiffer et al. (1973) described a syndrome of femoral capital epiphyseal dysplasia, severe myopia, and deafness. Stature was normal. Although the femoral heads showed the most striking epiphyseal dysplasia, the changes were apparently not limited to that site. The authors found no reported case that seemed identical to these. *FIELD* RF 1. Pfeiffer, R. A.; Junemann, G.; Polster, J.; Bauer, H.: Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers. Clin. Genet. 4: 141-144, 1973. *FIELD* CS Growth: Normal stature Skel: Femoral capital epiphyseal dysplasia;

Inheritance : Autosomal recessive;

Prefixed ID : 226950;

Details

Origin ID

226950;

UMLS CUI

C1856918;

Currated CISMeF NLP mapping
- epiphyseal dysplasia of femoral head, myopia, and deafness [MeSH concept]
- epiphyseal dysplasia of femoral head, myopia, and deafness [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the epiphysis of the femoral head [HPO term]
- Autosomal recessive inheritance [HPO term]
- Deafness [HPO term]
- Epiphyseal dysplasia [HPO term]
- Hearing impairment [HPO term]
- High myopia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epiphyseal dysplasia of femoral head, myopia, and deafness [MeSH Supplementary Concept]
- epiphyseal dysplasia of femoral head, myopia, and deafness [MeSH concept]

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