Overview
Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome is an extremely rare condition that affects the development of the face, hearing, and hands or feet. This condition is also sometimes referred to as Guion-Almeida syndrome or mandibulofacial dysostosis with postaxial polydactyly. The term 'OBSOLETE' in the disease name indicates that this condition may have been reclassified or merged with another diagnosis in medical databases, but the clinical features remain recognized. The main features of this syndrome include underdevelopment of the bones of the face, particularly the jaw and cheekbones (mandibulofacial dysostosis), hearing loss (which can range from mild to severe), and extra fingers or toes on the outer side of the hand or foot (postaxial polydactyly). Some affected individuals may also have other facial features such as downward-slanting eyes, a small jaw, and abnormalities of the outer ear. Developmental delays or intellectual disability may also be present in some cases. Because this condition is so rare, there is no specific cure. Treatment focuses on managing individual symptoms. This may include surgery to correct facial bone abnormalities or remove extra digits, hearing aids or cochlear implants for hearing loss, and speech therapy or educational support as needed. A team of specialists typically works together to provide the best care for affected individuals.
Also known as:
Key symptoms:
Underdeveloped jaw and cheekbonesHearing loss or deafnessExtra fingers or toes on the outer side of the hand or footDownward-slanting eyesSmall or abnormally shaped earsSmall lower jawCleft palate or high-arched palateFeeding difficulties in infancySpeech delaysPossible developmental delaysBreathing difficulties due to small jaw
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly 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 OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly 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 hearing loss, and what are the best options for hearing support?,Will my child need surgery for the facial bone abnormalities or extra digits, and when is the best time?,Are there any airway concerns we should watch for?,What genetic testing should be done, and should other family members be tested?,What therapies (speech, developmental, etc.) should we start, and how soon?,How often should we schedule follow-up visits with each specialist?,Are there any support groups or resources for families with this condition?
Common questions about OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome
What is OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome?
Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome is an extremely rare condition that affects the development of the face, hearing, and hands or feet. This condition is also sometimes referred to as Guion-Almeida syndrome or mandibulofacial dysostosis with postaxial polydactyly. The term 'OBSOLETE' in the disease name indicates that this condition may have been reclassified or merged with another diagnosis in medical databases, but the clinical features remain recognized. The main features of this syndrome include underdevelopment of the bones of the face, particularly the ja
How is OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome inherited?
OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome typically begin?
Typical onset of OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome is neonatal. Age of onset can vary across affected individuals.