Overview
Charlie M syndrome is an extremely rare congenital condition that affects the development of the face, hands, and feet. It is sometimes referred to as a form of oromandibular-limb hypogenesis syndrome. The condition is present at birth and involves a combination of facial abnormalities and limb defects. Key features include underdevelopment or absence of parts of the lower jaw (mandible), abnormalities of the mouth and tongue, and malformations of the hands and feet, which may include missing or shortened fingers and toes. The facial features can include a small or receding chin (micrognathia), cleft palate, and abnormalities of the tongue. Some affected individuals may also have dental problems and difficulty feeding. Because Charlie M syndrome is so rare, with only a handful of cases described in the medical literature, there is limited understanding of its full range of symptoms and causes. The exact genetic basis has not been clearly established. Treatment is supportive and focuses on managing the specific symptoms present in each individual. This may include surgical correction of facial and limb abnormalities, dental care, speech therapy, and feeding support. A team of specialists is typically needed to address the various aspects of this condition. The long-term outlook depends on the severity of the malformations and how well they respond to treatment.
Key symptoms:
Underdeveloped or missing lower jawSmall chinCleft palateTongue abnormalitiesMissing or shortened fingersMissing or shortened toesHand malformationsFoot malformationsFeeding difficultiesDental abnormalitiesSpeech difficultiesFacial asymmetry
Clinical phenotype terms (16)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Charlie M syndrome.
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Specialists
View all specialists →No specialists are currently listed for Charlie M syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Charlie M syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe are my child's jaw and limb abnormalities, and what surgeries might be needed?,Are there any breathing or airway concerns we should watch for?,What feeding strategies or supports do you recommend?,Should we pursue genetic testing to rule out other conditions?,What therapies (speech, occupational) should we start and when?,How will this condition affect my child's development and daily life?,Are there any other specialists we should see?
Common questions about Charlie M syndrome
What is Charlie M syndrome?
Charlie M syndrome is an extremely rare congenital condition that affects the development of the face, hands, and feet. It is sometimes referred to as a form of oromandibular-limb hypogenesis syndrome. The condition is present at birth and involves a combination of facial abnormalities and limb defects. Key features include underdevelopment or absence of parts of the lower jaw (mandible), abnormalities of the mouth and tongue, and malformations of the hands and feet, which may include missing or shortened fingers and toes. The facial features can include a small or receding chin (micrognathia)
How is Charlie M syndrome inherited?
Charlie M syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Charlie M syndrome typically begin?
Typical onset of Charlie M syndrome is neonatal. Age of onset can vary across affected individuals.