Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)

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OMIM 56 250220 KEGG 36 H01825 MeSH 43 D010009 MESH via Orphanet 44 C535798 ICD10 via Orphanet 33 Q77.8

UMLS via Orphanet 72 C1855229 Orphanet 58 ORPHA93317 MedGen 41 C1855229 SNOMED-CT via HPO 68 102594003 123982003 123983008 16026008 201093004 23024003 233917008 249671009 249696007 249704008 249765007 249808002 253251006 253366007 258211005 28681006 289457006 397932003 405752007 410430005 43476002 44808001 48069004 50920009 5102002 698247007 70142008 702350003 95427009 more UMLS 71 C1855229

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93317 Definition Spondylometaphyseal 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. Epidemiology Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin. Clinical description A 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. Etiology Etiology remains unknown. Genetic counseling Autosomal recessive inheritance has been suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as sedaghatian chondrodysplasia, is related to spondylometaphyseal dysplasia, kozlowski type and spondylometaphyseal dysplasia with cone-rod dystrophy. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). The drugs Uric acid and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are delayed skeletal maturation and atrioventricular block

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS.

UniProtKB/Swiss-Prot : ⁷³ 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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