Smith-mccort dysplasia 2

Preferred Label : Smith-mccort dysplasia 2;

Symbol : SMC2;

CISMeF acronym : SMC2;

Type : Phenotype, molecular basis known;

Description : Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Ras-associated protein RAB33B gene (RAB33B, 605950.0001);

Prefixed ID : #615222;

Details

Origin ID

615222;

UMLS CUI

C3714896;

Currated CISMeF NLP mapping
- Smith McCort dysplasia (disorder) [SNOMED CT concept]
- Smith-McCort dysplasia [MeSH concept]
- Smith-McCort dysplasia [MeSH Supplementary Concept]
- Smith-McCort dysplasia [ORDO Disease]
- Smith-McCort dysplasia [ICD-11 More detail]
- Smith-McCort dysplasia [DO Concept]
DO Cross reference
- Smith-McCort dysplasia [DO Concept]
Genes related to phenotype
- Ras-associated protein rab33b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Broad femoral neck [HPO term]
- Broad metatarsal [HPO term]
- Broad phalanx [HPO term]
- Decreased body weight [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Flattened epiphysis [HPO term]
- Flattened femoral head [HPO term]
- Genu valgum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Metaphyseal irregularity [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Smith-McCort dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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