Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance

Preferred Label : Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : McAlister et al. (1986) reported a 7.5-year-old girl with short stature, aged appearance, decreased subcutaneous fat and muscle mass, dry coarse hair, macroepiphyses with prominent but lax joints, and osteoporosis with recurrent fractures. The parents were first cousins. The palms were markedly wrinkled with a complex dermatoglyphic pattern. *FIELD* RF 1. McAlister, W. H.; Coe, J. D.; Whyte, M. P.: Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition. Skeletal Radiol. 15: 47-51, 1986. *FIELD* CS Growth: Short stature;

Inheritance : Autosomal recessive;

Prefixed ID : 248010;

Details

Origin ID

248010;

UMLS CUI

C2931597;

Currated CISMeF NLP mapping
- macroepiphyseal dysplasia, McAlister coe type [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coarse hair [HPO term]
- Complex palmar dermatoglyphic pattern [HPO term]
- Decreased muscle mass [HPO term]
- Enlarged joints [HPO term]
- Epiphyseal dysplasia [HPO term]
- Joint laxity [HPO term]
- Osteoporosis [HPO term]
- Prematurely aged appearance [HPO term]
- Recurrent fractures [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macroepiphyseal dysplasia, McAlister Coe type [MeSH concept]
- macroepiphyseal dysplasia, McAlister coe type [MeSH Supplementary Concept]

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