Overview
Aphalangy-syndactyly-microcephaly syndrome is an extremely rare genetic condition that affects the development of the hands, feet, and brain. The name describes its three main features: aphalangy means the absence of one or more finger or toe bones (phalanges), syndactyly means webbing or fusion of the fingers or toes, and microcephaly means a smaller-than-expected head size, which often reflects reduced brain growth. Children born with this condition typically have noticeable differences in their hands and feet at birth, along with a head circumference that is smaller than average for their age. Because the brain may be underdeveloped, some affected individuals may experience intellectual disability or developmental delays. Additional features that have been reported in some cases include unusual facial features and other skeletal abnormalities. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are not yet well understood. There is currently no cure, and treatment focuses on managing individual symptoms through surgery, therapy, and supportive care. A team of specialists is usually needed to address the different aspects of this condition.
Key symptoms:
Missing finger or toe bones (absent phalanges)Webbed or fused fingers or toesSmaller than normal head sizeIntellectual disability or learning difficultiesDevelopmental delaysUnusual facial featuresShort or absent nailsSkeletal abnormalities in the hands and feetPossible speech delays
Clinical phenotype terms (13)— hover any for plain English
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 Aphalangy-syndactyly-microcephaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aphalangy-syndactyly-microcephaly 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 Aphalangy-syndactyly-microcephaly 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 hand and foot differences, and what surgical options are available?,How will microcephaly affect my child's development, and what therapies should we start?,Should we pursue genetic testing, and what can it tell us about the cause?,What early intervention services should my child receive?,Are there risks for future children in our family having the same condition?,How often should we schedule follow-up appointments with specialists?,Are there any research studies or registries we can participate in?
Common questions about Aphalangy-syndactyly-microcephaly syndrome
What is Aphalangy-syndactyly-microcephaly syndrome?
Aphalangy-syndactyly-microcephaly syndrome is an extremely rare genetic condition that affects the development of the hands, feet, and brain. The name describes its three main features: aphalangy means the absence of one or more finger or toe bones (phalanges), syndactyly means webbing or fusion of the fingers or toes, and microcephaly means a smaller-than-expected head size, which often reflects reduced brain growth. Children born with this condition typically have noticeable differences in their hands and feet at birth, along with a head circumference that is smaller than average for their a
How is Aphalangy-syndactyly-microcephaly syndrome inherited?
Aphalangy-syndactyly-microcephaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aphalangy-syndactyly-microcephaly syndrome typically begin?
Typical onset of Aphalangy-syndactyly-microcephaly syndrome is neonatal. Age of onset can vary across affected individuals.