KEGG DISEASE: SEMD, short limb-hand type

KEGG

DISEASE: SEMD, short limb-hand type

Entry

H00777                      Disease

Name

SEMD, short limb-hand type;
SEMD, short limb-abnormal calcification type

Supergrp

Spondyloepimetaphyseal dysplasia [DS:H02187]

Description

Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition include short stature with typical short hands and broad, puffy fingers, a narrow chest, and a characteristic craniofacial appearance. Their long bones are short due to premature epiphyses and irregular metaphyses.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00777  SEMD, short limb-hand type

Gene

DDR2 [HSA:4921] [KO:K05125]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A

Title

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Journal

Am J Hum Genet 84:80-4 (2009)
DOI:10.1016/j.ajhg.2008.12.004

Reference

Authors

Smithson SF, Grier D, Hall CM

Title

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Journal

Clin Dysmorphol 18:31-5 (2009)
DOI:10.1097/MCD.0b013e3283189762

Reference

Authors

Tuysuz B, Gazioglu N, Ungur S, Aji DY, Turkmen S

Title

The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

Journal

Pediatr Radiol 39:84-9 (2009)
DOI:10.1007/s00247-008-1036-1

LinkDB

» Japanese version

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