Overview
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: joint contractures (stiffness and limited movement in the joints), a webbed neck (extra folds of skin on the sides of the neck), micrognathia (an unusually small lower jaw), and hypoplastic nipples (underdeveloped or very small nipples). This syndrome belongs to a group of conditions sometimes referred to as multiple pterygium syndromes or arthrogryposis-related disorders, where joint limitations and skin webbing are prominent features. Because this condition is present from birth, it is typically noticed in the newborn period. Babies may have difficulty feeding due to the small jaw, and the joint contractures can limit movement of the arms, legs, or other joints. The webbing of the neck can vary in severity. Some affected individuals may also have other skeletal abnormalities or growth differences. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to improve joint mobility, surgical procedures to address the webbed neck or jaw abnormalities, and supportive care for feeding difficulties. Because the condition is so rare, treatment plans are highly individualized and typically involve a team of specialists working together.
Also known as:
Key symptoms:
Stiff joints with limited range of motion (joint contractures)Extra skin folds on the sides of the neck (webbed neck)Unusually small lower jaw (micrognathia)Underdeveloped or very small nipplesDifficulty feeding in infancyShort stature or growth delaysLimited movement of arms or legsSkin webbing across joints such as elbows or kneesSkeletal abnormalitiesPossible breathing difficulties due to small jaw
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome.
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Specialists
View all specialists →No specialists are currently listed for Contractures-webbed neck-micrognathia-hypoplastic nipples 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 Contractures-webbed neck-micrognathia-hypoplastic nipples 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What is the severity of my child's joint contractures, and what therapies can help improve movement?,Are there any breathing or airway concerns related to the small jaw?,Should we pursue genetic testing, and what might the results tell us?,What surgical options are available, and when would they be recommended?,How can we best support feeding and nutrition?,What early intervention services should we start right away?,Are there other conditions we should screen for that are associated with these features?
Common questions about Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
What is Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome?
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: joint contractures (stiffness and limited movement in the joints), a webbed neck (extra folds of skin on the sides of the neck), micrognathia (an unusually small lower jaw), and hypoplastic nipples (underdeveloped or very small nipples). This syndrome belongs to a group of conditions sometimes referred to as multiple pterygium syndromes or arthrogryposis-related disorders, where joint limitations and skin webbin
How is Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome inherited?
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome typically begin?
Typical onset of Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is neonatal. Age of onset can vary across affected individuals.