Metaphyseal dysostosis, impaired intellectual development, and conductive deafness

Preferred Label : Metaphyseal dysostosis, impaired intellectual development, and conductive deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Metaphyseal dysostosis, mental retardation, and conductive deafness;

Description : Rimoin and McAlister (1971) reported 3 brothers, born of consanguineous Sicilian parents, with an apparently autosomal recessive syndrome of metaphyseal dysplasia, short-limb dwarfism that was more apparent in the lower limbs, mild mental retardation, and conductive hearing loss. All 3 had repeated episodes of otitis media in childhood. Two had hyperopia and strabismus. Hands and feet were short and broad with squared-off nails, and fingers were noted to be markedly loose-jointed in all 3. The major radiographic changes were limited to the metaphyses, which were widened and irregular with broad areas of irregular dense calcification. The ribs were short and widened anteriorly with cupping and irregularity of the costochondral margins. The iliac wings were narrowed with a flattened pelvic inlet. The proximal femoral heads were well ossified but the femoral necks were small, resulting in a varus deformity. The long tubular bones were all markedly shortened. The distal ulnas were shortened and deformed relative to the radii. The lower limbs were bowed with the fibula longer than the tibia. Genu varum was present. The carpal and tarsal bones were small but not greatly deformed. The short tubular bones were all severely shortened with marked epiphyseal-metaphyseal flaring. The phalanges were wide. *FIELD* RF 1. Rimoin, D. L.; McAlister, W. H.: Metaphyseal dysostosis, conductive hearing loss, and mental retardation: a recessively inherited syndrome. Birth Defects Orig. Art. Ser. VII(4): 116-122, 1971. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 250420;

Details

Origin ID

250420;

UMLS CUI

C1855175;

Currated CISMeF NLP mapping
- Metaphyseal dysostosis - intellectual deficit - conductive deafness [ICD-11 More detail]
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) [SNOMED CT concept]
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome [ORDO Disease]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH concept]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nail [HPO term]
- Anterior polar cataract [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Broad phalanx [HPO term]
- Carpal bone hypoplasia [HPO term]
- Conductive hearing impairment [HPO term]
- Coxa vara [HPO term]
- Cupped ribs [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Flat glenoid fossa [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hypermetropia [HPO term]
- Intellectual disability, mild [HPO term]
- Irregular chondrocostal junctions [HPO term]
- Irregular costochondral margins [HPO term]
- Irregular iliac crest [HPO term]
- Joint laxity [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal dysostosis [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal widening [HPO term]
- Narrow iliac wing [HPO term]
- Obesity [HPO term]
- Recurrent otitis media [HPO term]
- Scoliosis [HPO term]
- Short broad hands [HPO term]
- Short foot [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short palm [HPO term]
- Short ribs [HPO term]
- Strabismus [HPO term]
- Widened, irregular metaphyses [HPO term]
ORDO concept(s)
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysostosis - intellectual deficit - conductive deafness [ICD-11 More detail]
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome [ORDO Disease]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH Supplementary Concept]
- metaphyseal dysostosis, mental retardation, and conductive deafness [MeSH concept]

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