Skip to content
knowrare
HealthSignal
Your condition community

Living with Freeman-Sheldon syndrome

A condition mainly affecting the face and skull muscles and often hand and foot joints, with a small, puckered mouth and tight joints.

Get Signals Ask Anything

Understanding Freeman-Sheldon syndrome

Freeman-Sheldon syndrome, also called whistling face syndrome, is a condition that mainly affects muscles of the face and skull and often the joints of the hands and feet.

It causes contractures, which are permanent tightening of muscles, skin, and tendons that limit movement. Face contractures give a small mouth with pursed lips, as if whistling, and an H- or V-shaped chin dimple. Other features can include deep-set or widely spaced eyes, droopy eyelids, a small jaw, and a high-arched palate. It begins before or at birth.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Small mouth with pursed lips
  • Chin dimple and deep skin folds near the nose
  • Joint stiffness and tight hands
  • Club feet
  • Droopy eyelids and crossed eyes
  • Feeding difficulties in infancy

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in MYH3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    Arthrogryposis Multiplex Congenita Support Inc. may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
Expert care
Expert lists: Arthrogryposis Multiplex Congenita Support Inc.
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Arthrogryposis Multiplex Congenita Support Inc. and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Should we have genetic testing for the MYH3 gene?
What care helps with feeding and speech?
What should we know about anesthesia and surgery?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Dominant, Autosomal Recessive
GenesMYH3

Changes in the MYH3 gene cause it. It can be inherited in an autosomal dominant or autosomal recessive way.

GeneticNeurological

Also known as: arthrogryposis, distal, type 2a; arthrogryposis, distal, type 2a (freeman-sheldon); cranio-carpo-tarsal syndrome; craniocarpotarsal dysplasia; craniocarpotarsal dystrophy; da2a

Patient organizations

Source: NIH GARD · Freeman-Sheldon syndromeGARD ID 6466 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Freeman-Sheldon syndrome.

Explore the Freeman-Sheldon syndrome blog
Broader resource

9 Things to Know After Diagnosis

Read article
Broader resource

The Invisible Job: What Caregiving for a Rare Disease Really Looks Like

Read article
Broader resource

Embrace the Ask: How to Seek The Support You Need

Read article
Your experience could help someone else.

Share your story with our editorial team.

Share your story You choose what to share.

Explore research for Freeman-Sheldon syndrome

Explore actively recruiting Freeman-Sheldon syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Freeman-Sheldon syndrome with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

Powered by HealthSpark, our AI chat helper

I can help you find recruiting Freeman-Sheldon syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.

Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

Get Signals for Freeman-Sheldon syndrome

Stay in the loop with community stories and updates from medical researchers.

HealthStoryfor Freeman-Sheldon syndrome

Create a living journal that talks back

HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Freeman-Sheldon syndrome experiences more deeply and prepare for better conversations with your doctors and care team.

Start your journal

Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.