Overview
Schilbach-Rott syndrome is an extremely rare genetic condition that primarily affects the development of the face, hands, and feet. It belongs to a group of disorders sometimes described as split-hand/split-foot malformations with facial features. People with this syndrome are typically born with distinctive facial characteristics, including a short nose with a broad or flat nasal bridge, a thin upper lip, and underdeveloped (hypoplastic) midface structures. The hands and feet may show ectrodactyly, which means missing or fused fingers and toes, sometimes described as a "lobster claw" appearance. Some individuals may also have cleft palate or other oral abnormalities. The syndrome was first described by Schilbach and Rott in 1988. Because it is so rare, with only a handful of families reported in the medical literature, much about the condition remains poorly understood. There is no cure for Schilbach-Rott syndrome. Treatment focuses on managing individual symptoms, such as surgical correction of hand or foot malformations, dental care, speech therapy for those with cleft palate, and supportive therapies to help with daily functioning. Genetic counseling is recommended for affected families to understand the risk of passing the condition to future children.
Also known as:
Key symptoms:
Missing or fused fingers or toes (split hand/foot malformation)Short nose with a broad or flat nasal bridgeThin upper lipUnderdeveloped midfaceCleft palate or high-arched palateWidely spaced eyesSmall jawDental abnormalitiesAbnormal tear ductsShort stature in some casesMild developmental differences in some individuals
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 Schilbach-Rott syndrome.
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Specialists
View all specialists →No specialists are currently listed for Schilbach-Rott 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 Schilbach-Rott 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.How severe are my child's hand and foot malformations, and what surgeries might be needed?,Will my child need speech therapy, and when should it start?,Is genetic testing available to confirm the diagnosis?,What is the chance of passing this condition to future children?,Are there any specialists or centers with experience treating this syndrome?,What adaptive tools or therapies can help my child in school?,Should other family members be evaluated for signs of this condition?
Common questions about Schilbach-Rott syndrome
What is Schilbach-Rott syndrome?
Schilbach-Rott syndrome is an extremely rare genetic condition that primarily affects the development of the face, hands, and feet. It belongs to a group of disorders sometimes described as split-hand/split-foot malformations with facial features. People with this syndrome are typically born with distinctive facial characteristics, including a short nose with a broad or flat nasal bridge, a thin upper lip, and underdeveloped (hypoplastic) midface structures. The hands and feet may show ectrodactyly, which means missing or fused fingers and toes, sometimes described as a "lobster claw" appearan
How is Schilbach-Rott syndrome inherited?
Schilbach-Rott syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Schilbach-Rott syndrome typically begin?
Typical onset of Schilbach-Rott syndrome is neonatal. Age of onset can vary across affected individuals.