Overview
Orofaciodigital syndrome type 1 (OFD1), also known as Papillon-Léage-Psaume syndrome, is a rare genetic disorder that primarily affects the development of the oral cavity, face, and digits (fingers and toes). It is caused by pathogenic variants in the OFD1 gene (also known as CXORF5), located on the X chromosome. This condition is typically lethal in males during embryonic development, so it is observed almost exclusively in females. The hallmark features of OFD1 involve multiple body systems. Oral abnormalities include a lobed or bifid tongue, lingual hamartomas (benign tongue growths), cleft palate or high-arched palate, abnormal frenulae (bands of tissue connecting the lips and gums), and dental anomalies such as missing or extra teeth. Facial features may include facial asymmetry, milia (small skin cysts) particularly on the ears and face, median cleft lip, and a broad nasal root with hypoplasia of the nasal alae. Digital abnormalities include brachydactyly (short fingers or toes), syndactyly (fused digits), clinodactyly (curved digits), and polydactyly. Importantly, approximately 50% of affected individuals develop polycystic kidney disease, which can progress to renal failure and represents a major cause of morbidity and mortality. Central nervous system involvement, including agenesis of the corpus callosum, cerebellar abnormalities, and intellectual disability, occurs in a subset of patients. There is currently no cure for OFD1. Management is multidisciplinary and symptom-based. Surgical interventions may address cleft palate, tongue abnormalities, and polydactyly. Dental care is important for managing oral anomalies. Renal function should be monitored regularly due to the risk of polycystic kidney disease, and standard treatments for chronic kidney disease are applied as needed. Neurodevelopmental support, including speech therapy and educational interventions, may be beneficial for those with intellectual disability.
Clinical phenotype terms— hover any for plain English:
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
3 eventsUniversity Hospital, Clermont-Ferrand — NA
Massachusetts General Hospital — NA
Massachusetts General Hospital — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Orofaciodigital syndrome type 1.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Orofaciodigital syndrome type 1.
Community
No community posts yet. Be the first to share your experience with Orofaciodigital syndrome type 1.
Start the conversation →Latest news about Orofaciodigital syndrome type 1
Disease timeline:
New recruiting trial: Optimal Strategy to Correct Stent underexpAnsion in Resistant Lesions
A new clinical trial is recruiting patients for Orofaciodigital syndrome type 1
New recruiting trial: Pilot Study for TCE Imaging of the Esophagus Using an OFDI Capsule With a Compact Imaging System
A new clinical trial is recruiting patients for Orofaciodigital syndrome type 1
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.
Common questions about Orofaciodigital syndrome type 1
What is Orofaciodigital syndrome type 1?
Orofaciodigital syndrome type 1 (OFD1), also known as Papillon-Léage-Psaume syndrome, is a rare genetic disorder that primarily affects the development of the oral cavity, face, and digits (fingers and toes). It is caused by pathogenic variants in the OFD1 gene (also known as CXORF5), located on the X chromosome. This condition is typically lethal in males during embryonic development, so it is observed almost exclusively in females. The hallmark features of OFD1 involve multiple body systems. Oral abnormalities include a lobed or bifid tongue, lingual hamartomas (benign tongue growths), clef
How is Orofaciodigital syndrome type 1 inherited?
Orofaciodigital syndrome type 1 follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Orofaciodigital syndrome type 1 typically begin?
Typical onset of Orofaciodigital syndrome type 1 is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Orofaciodigital syndrome type 1?
Yes — 3 recruiting clinical trials are currently listed for Orofaciodigital syndrome type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Orofaciodigital syndrome type 1?
2 specialists and care centers treating Orofaciodigital syndrome type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.