Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

External Ids:

OMIM 57 613330 Orphanet 59 ORPHA228387 ICD10 via Orphanet 34 Q77.7 UMLS via Orphanet 74 C2750066 MedGen 42 C2750066

MeSH 44 D001848 KEGG 37 H00863 SNOMED-CT via HPO 69 258211005 194021007 22006008 95427009 249696007 203598005 385522000 55033002 57048009 7890003 88565003 74820003 299330008 299331007 27837003 more UMLS 73 C2750066

OMIM : ⁵⁷ 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 : ⁷⁵ 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.