Freeman-Sheldon syndrome

MONDO:0008675

A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Also known as: Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Freeman Sheldon Syndrome, Freeman Sheldon syndrome, Freeman-Sheldon syndrome, arthrogryposis, distal, type 2A (Freeman-Sheldon), cranio-carpo-tarsal syndrome, craniocarpotarsal dysplasia

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

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Sub-types

Whistling face syndrome, recessive form (0)

Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Movement disorder (89) Muscle tissue disorder (53) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Hereditary neurological disease (5)

Trials to join now! 26 Not yet recruiting 6 Not yet finished but already full! 4 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

Freeman-Sheldon syndrome

Sub-types

Broader categories

Scientists gather leftover surgical tissue to unlock secrets of bone disease