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

1 clinical trial for this condition and its sub-types, 0 tagged with Spondylometaphyseal dysplasia, Sedaghatian type itself.

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↑ Inherited glutathione metabolism disease (1) ↑ Severe spondylodysplastic dysplasia (0) ↑ Spondylometaphyseal dysplasia (0)

Including sub-types (1) Tagged with Spondylometaphyseal dysplasia, Sedaghatian type (0)

Trials to join now! 1

NIH launches major study to unlock secrets of rare bone diseases

Knowledge-focused Recruiting now

This study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

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

Last updated Sep 18, 2026 00:00 UTC

Spondylometaphyseal dysplasia, Sedaghatian type

Where it sits in the disease tree

NIH launches major study to unlock secrets of rare bone diseases