Lipodystrophy, generalized, with impaired intellectual development, deafness, short stature, and slender bones

Preferred Label : Lipodystrophy, generalized, with impaired intellectual development, deafness, short stature, and slender bones;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones;

Description : Rajab et al. (2003) presented 3 patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. No abnormalities of lipid or carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, or hirsutism were found. Rajab et al. (2003) suggested that the occurrence in sibs born to consanguineous parents and the observation of a third patient from the same Omani tribal unit suggested autosomal recessive inheritance. *FIELD* RF 1. Rajab, A.; Khaburi, M.; Spranger, S.; Kunze, J.; Spranger, J.: Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome? Am. J. Med. Genet. 121A: 271-276, 2003. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : %608154;

Details

Origin ID

608154;

UMLS CUI

C1842465;

Automatic exact mappings (from CISMeF team)
- Lipodystrophy - intellectual deficit - deafness [ICD-11 More detail]
- lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones [MeSH concept]
- lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Lipodystrophy-intellectual disability-deafness syndrome [ORDO Disease]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital generalized lipodystrophy [HPO term]
- Cubitus valgus [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Disharmonious carpal bone [HPO term]
- Failure to thrive [HPO term]
- Generalized lipodystrophy [HPO term]
- Genu valgum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long thorax [HPO term]
- Metaphyseal striations [HPO term]
- Osteopenia [HPO term]
- Progeroid facial appearance [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Slender build [HPO term]
- Slender long bones with narrow diaphyses [HPO term]
- Small for gestational age [HPO term]
- Sparse axillary hair [HPO term]
- Sparse facial hair [HPO term]
ORDO concept(s)
- Lipodystrophy-intellectual disability-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lipodystrophy-intellectual disability-deafness syndrome [ORDO Disease]
- lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones [MeSH Supplementary Concept]
- lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones [MeSH concept]

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