Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMDAG)

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OMIM 57 612813 Orphanet 59 ORPHA171866 UMLS via Orphanet 74 C2748544 ICD10 via Orphanet 34 Q77.7

MedGen 42 C2748544 MeSH 44 D001848 SNOMED-CT via HPO 69 258211005 109504005 22810007 253251006 95515009 95427009 43476002 27911000 298203008 24228002 17790008 50219008 254062008 3961000119101 249765007 249773003 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171866Disease definitionSpondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.EpidemiologyTo date, three cases have been described, all originating from the same family.Clinical descriptionFacial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly.EtiologyThe disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are short neck and mandibular prognathia

UniProtKB/Swiss-Prot : ⁷⁵ Spondyloepimetaphyseal dysplasia, aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.

Description from OMIM: 612813

Clinical features from OMIM:

612813

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