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Thanatophoric dysplasia type 1

MONDO:0008546

Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

Also known as: TD1, thanatophoric dwarfism type 1, thanatophoric dysplasia, type 1, type 1 thanatophoric dysplasia, PLSD San Diego type, Platyspondylic lethal skeletal dysplasia, San Diego type, lethal short-limbed Platyspondylic dwarfism, San Diego type, thanatophoric dwarfism

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

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Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Human disease (14) Osteochondrodysplasia (12) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1)

Trials to join now! 17 Not yet recruiting 6 Not yet finished but already full! 4 Completed 7 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