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

14 clinical trials for this condition and its sub-types, 1 tagged with Freeman-Sheldon syndrome itself.

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Where it sits in the disease tree

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↑ Syndromic disease (7133) ↑ Congenital nervous system disorder (284) ↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163) ↑ Arthrogryposis (6) ↑ Distal arthrogryposis (3)

Sub-types of Freeman-Sheldon syndrome

Whistling face syndrome, recessive form 0 trials

Including sub-types (14) Tagged with Freeman-Sheldon syndrome (1)

Trials to join now! 1

3D-Printed splints aim to restore smiles for burn survivors

Symptom relief Recruiting now

This study tests whether a custom 3D-printed mouth splint can help burn patients who have developed microstomia (a tight, small mouth opening). Ten participants will use the splint and be measured for changes in mouth size and function using a special survey. The goal is to ease …

Sponsor: Wake Forest University Health Sciences • Aim: Symptom relief

Last updated Jun 27, 2026 08:04 UTC

Freeman-Sheldon syndrome

Where it sits in the disease tree

3D-Printed splints aim to restore smiles for burn survivors