Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)

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OMIM 57 250220 Orphanet 59 ORPHA93317 UMLS via Orphanet 74 C1855229 ICD10 via Orphanet 34 Q77.8 MESH via Orphanet 45 C535798

MedGen 42 C1855229 MeSH 44 D010009 KEGG 37 H01825 SNOMED-CT via HPO 69 258211005 48069004 253251006 95427009 249696007 249671009 249704008 43476002 5102002 23024003 16026008 201093004 253366007 405752007 70142008 233917008 249808002 397932003 702350003 123983008 289457006 123982003 28681006 410430005 249765007 102594003 44808001 698247007 50920009 103370009 446411000124101 446421000124109 6736007 24484000 795002 272741003 51440002 66459002 264180000 263795004 60132005 255471002 46053002 40415009 more UMLS 73 C1855229

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93317Disease definitionSpondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.EpidemiologyNine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin.Clinical descriptionA lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy.EtiologyEtiology remains unknown.Genetic counselingAutosomal recessive inheritance has been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as spondylometaphyseal dysplasia sedaghatian type, is related to spondylometaphyseal dysplasia, kozlowski type and spondylometaphyseal dysplasia, axial. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). Affiliated tissues include bone, kidney and heart, and related phenotypes are agenesis of corpus callosum and delayed skeletal maturation

OMIM : ⁵⁷ Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). (250220)

UniProtKB/Swiss-Prot : ⁷⁵ Spondylometaphyseal dysplasia, Sedaghatian type: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities.

Clinical features from OMIM:

250220

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