Spondylo-megaepiphyseal-metaphyseal dysplasia

Preferred Label : Spondylo-megaepiphyseal-metaphyseal dysplasia;

Symbol : SMMD;

CISMeF acronym : SMMD;

Type : Phenotype, molecular basis known;

Description : Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Drosophila bagpipe homeobox gene (NKX3-2, 602183.0001);

Prefixed ID : #613330;

Details

Origin ID

613330;

UMLS CUI

C2750066;

Currated CISMeF NLP mapping
- Spondylo-Megaepiphyseal-Metaphyseal dysplasia [MeSH concept]
- Spondylo-Megaepiphyseal-Metaphyseal dysplasia [MeSH Supplementary Concept]
- Spondylo-megaepiphyseal-metaphyseal dysplasia [ORDO Disease]
- Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondylo megaepiphyseal metaphyseal dysplasia [Disease (Nov.)]
Genes related to phenotype
- Nk3 homeobox 2 [OMIM gene]
HPO term(s)
- Abnormality of the epididymis [HPO term]
- Abnormally ossified vertebrae [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coxa vara [HPO term]
- Delayed pubic bone ossification [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Enlarged epiphyses [HPO term]
- Flexion contracture [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic ilia [HPO term]
- Macrocephaly [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal irregularity [HPO term]
- Protuberant abdomen [HPO term]
- Pseudoepiphyses of hand bones [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
ORDO concept(s)
- Spondylo-megaepiphyseal-metaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylo-Megaepiphyseal-Metaphyseal dysplasia [MeSH Supplementary Concept]
- Spondylo-Megaepiphyseal-Metaphyseal dysplasia [MeSH concept]
- Spondylo-megaepiphyseal-metaphyseal dysplasia [ORDO Disease]
- Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondylo megaepiphyseal metaphyseal dysplasia [Disease (Nov.)]

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