Spondylometaphyseal dysplasia, Sedaghatian type

MONDO:0009593

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.

Also known as: spondylometaphyseal dysplasia, Sedaghatian type, SMDS, Sedaghatian chondrodysplasia, lethal metaphyseal dysplasia, metaphyseal chondrodysplasia, congenital lethal, spondylometaphyseal dysplasia Sedaghatian type

59 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Inborn errors of metabolism (42) Human disease (14) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Mineral metabolism disease (1)

Trials to join now! 30 Not yet recruiting 9 Not yet finished but already full! 7 Completed 12 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC

Spondylometaphyseal dysplasia, Sedaghatian type

Broader categories

Scientists gather leftover surgical tissue to unlock secrets of bone disease