Overview
Autosomal recessive faciodigitogenital syndrome, also known as autosomal recessive Aarskog-Scott syndrome or autosomal recessive faciogenital dysplasia, is an extremely rare inherited condition that affects the development of the face, fingers, toes, and genital area. This condition is closely related to the more commonly described X-linked form of Aarskog-Scott syndrome but follows an autosomal recessive inheritance pattern, meaning a child must inherit a changed gene from both parents to be affected. The syndrome is characterized by distinctive facial features, including a round face, widely spaced eyes, a small nose with nostrils that tilt forward, and a wide area between the upper lip and nose. The hands and feet may show short fingers and toes, with webbing between the fingers and a characteristic curving inward of the pinky finger. Males may have a "shawl" or hooded scrotum, which is a hallmark feature. Mild short stature is common, and some individuals may have mild learning difficulties, though intelligence is often normal. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and may include surgical correction of certain physical features, growth hormone therapy if growth is significantly affected, and educational support when needed. Regular follow-up with multiple specialists helps ensure the best possible outcomes. With appropriate care, many individuals lead fulfilling lives.
Also known as:
Key symptoms:
Round face with widely spaced eyesSmall nose with forward-tilting nostrilsWide groove between the upper lip and noseShort statureShort fingers and toesWebbing between fingersInward curving of the pinky fingerShawl or hooded scrotum in malesUndescended testiclesBroad foreheadWidow's peak hairlineMild joint loosenessMild learning difficulties in some casesDelayed growth in childhoodBelly button hernia
Clinical phenotype terms (34)— 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 Autosomal recessive faciodigitogenital syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive faciodigitogenital 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 Autosomal recessive faciodigitogenital syndrome.
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Caregiver Resources
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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.What specific genetic testing should be done to confirm the diagnosis?,Are there any surgeries my child will need, and when should they be done?,Should my child be evaluated for growth hormone therapy?,What developmental milestones should I watch for, and when should I be concerned?,What is the chance of having another child with this condition?,Are there any specialists we should see regularly?,Are there any clinical trials or research studies we could participate in?
Common questions about Autosomal recessive faciodigitogenital syndrome
What is Autosomal recessive faciodigitogenital syndrome?
Autosomal recessive faciodigitogenital syndrome, also known as autosomal recessive Aarskog-Scott syndrome or autosomal recessive faciogenital dysplasia, is an extremely rare inherited condition that affects the development of the face, fingers, toes, and genital area. This condition is closely related to the more commonly described X-linked form of Aarskog-Scott syndrome but follows an autosomal recessive inheritance pattern, meaning a child must inherit a changed gene from both parents to be affected. The syndrome is characterized by distinctive facial features, including a round face, widel
How is Autosomal recessive faciodigitogenital syndrome inherited?
Autosomal recessive faciodigitogenital syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive faciodigitogenital syndrome typically begin?
Typical onset of Autosomal recessive faciodigitogenital syndrome is neonatal. Age of onset can vary across affected individuals.