Living with Arthrogryposis multiplex congenita-whistling face syndrome
An extremely rare condition present from birth with stiff joints, a small mouth with a whistling look, and severe developmental delay.
Understanding Arthrogryposis multiplex congenita-whistling face syndrome
People have multiple stiff joints and a very small mouth that gives a whistling appearance, which can cause feeding, swallowing, and speech difficulties. The face has little expression. Other features include severe developmental delay, drooling, temperature changes, and seizures. Some have Pierre-Robin sequence (a small jaw and cleft palate). It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff joints
- Small mouth with a whistling look
- Small lower jaw (micrognathia)
- Low muscle tone
- Severe developmental delay
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc., World Craniofacial Foundation
- 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
Quick facts
GARD says changes in genes (also called variants) cause this syndrome. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arthrogryposis multiplex congenita and whistling face syndrome; arthrogryposis multiplex congenita whistling face; illium syndrome; illum syndrome; lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Arthrogryposis multiplex congenita-whistling face syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis multiplex congenita-whistling face syndrome.
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