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Neonatal osteosclerotic dysplasia

MONDO:0019702

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

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Sub-types

Desmosterolosis (2) Caffey disease (0) Chondrodysplasia Blomstrand type (0) Dysplastic cortical hyperostosis (0) Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type (0) Lethal osteosclerotic bone dysplasia (0) Lethal short-limb skeletal dysplasia, Al Gazali type (0)

Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Osteochondrodysplasia (12) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1)

Trials to join now! 1 Terminated 1

New study aims to unlock secrets of rare cholesterol diseases

Knowledge-focused Recruiting now

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Aug 19, 2026 00:00 UTC