Spondylometaphyseal Dysplasia, Sedaghatian Type

Alternative Names

  • Sedaghatian Chondrodysplasia
  • Metaphyseal Chondrodysplasia, Congenital Lethal
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number


Mode of Inheritance

Autosomal recessive


Congenital lethal metaphyseal chondrodysplasia, also known as spondylometaphyseal dysplasia or platyspondylic lethal osteochondrodysplasia (Shiraz type), comprises normal normal intrauterine growth, narrow rib cage, rhizomelic shortness of limbs, slight platyspondyly, and severe metaphyseal dysplasia. Metaphyseal dysplasia predominantly occurs in males and all patients with this disorder die shortly after birth because of subacute myocarditis, pulmonary hemorrhage, cortical necrosis of kidneys, and adrenal.

Epidemiology in the Arab World

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Other Reports

United Arab Emirates

[See also: Yemen > Koutouby et al., 2000].


Koutouby et al. (2000) reported a case of spondylometaphyseal dysplasia in a male infant who was born to non-consanguineous Yemeni parents. He had an older brother and an older sister who were both normal. Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs. The skeletal survey showed striking radiological changes that were consistent with lethal metaphyseal chondrodysplasia (Sedaghatian type). The patient was thoroughly investigated for serum calcium, magnesium, zinc, ammonia, phosphate level, alkaline phosphatase, parathormone level, liver and renal function test, TORCH, metabolic screening, skeletal survey, chromosomal studies, muscle enzymes, EEG, computed tomography scan, and magnetic resonance imaging (brain). The skeletal survey was repeated at different ages with the last one being done at age 138 days. The findings remained unchanged except increasing evidence of diffuse osteopenia and irregular mineralization at the metaphysic of tubular bones. The patient died at 161 days of age and his genomic DNA was sent for analysis abroad.

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