Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD)

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OMIM 58 613330 KEGG 38 H00863 MeSH 45 D001848 ICD10 via Orphanet 35 Q77.7 UMLS via Orphanet 75 C2750066

Orphanet 60 ORPHA228387 MedGen 43 C2750066 SNOMED-CT via HPO 70 194021007 203598005 22006008 249696007 258211005 27837003 299330008 299331007 385522000 55033002 57048009 74820003 7890003 88565003 95427009 more UMLS 74 C2750066

OMIM : ⁵⁸ 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). (613330)

MalaCards based summary : Spondylo-Megaepiphyseal-Metaphyseal Dysplasia, also known as smmd, is related to pyle disease and cleidocranial dysplasia. An important gene associated with Spondylo-Megaepiphyseal-Metaphyseal Dysplasia is NKX3-2 (NK3 Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : ⁷⁶ Spondylo-megaepiphyseal-metaphyseal dysplasia: A 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, 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.

Clinical features from OMIM:

613330

Search Clinical Trials , NIH Clinical Center for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Search GEO for disease gene expression data for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia.