Overview
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome (also known as FACES syndrome) is an extremely rare genetic condition that affects multiple body systems. The name FACES is an acronym that stands for Facial dysmorphism, Anorexia, Cachexia, Eye anomalies, and Skin anomalies. People with this condition are born with distinctive facial features that may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other unusual facial characteristics. A hallmark of the syndrome is severe difficulty gaining weight (anorexia and cachexia), meaning affected individuals tend to be very thin and may have significant growth problems from early life. Eye problems can include structural abnormalities of the eyes or vision difficulties. Skin findings may include dry, thin, or unusually textured skin, and there may be sparse hair. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the underlying genetic cause are not yet completely understood. There is currently no cure for FACES syndrome, and treatment focuses on managing individual symptoms such as nutritional support, eye care, and skin care. A team of specialists is typically needed to address the various aspects of this condition.
Also known as:
Key symptoms:
Unusual facial features such as broad forehead and widely spaced eyesSevere difficulty gaining weight or maintaining weightExtreme thinness (cachexia)Poor appetite or refusal to eatEye abnormalities or vision problemsDry, thin, or abnormal skinSparse or thin hairShort stature or growth delayFlat nasal bridgeSunken cheeks or hollow appearance of the facePossible developmental delays
Clinical phenotype terms (21)— 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)
FDA & Trial Timeline
7 eventsIcahn School of Medicine at Mount Sinai — NA
Instituto Médico Tecnológico SL — NA
Jordan Collaborating Cardiology Group
Cairo University — NA
University Hospital, Grenoble — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome.
Community
No community posts yet. Be the first to share your experience with Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome.
Start the conversation →Latest news about Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Disease timeline:
New recruiting trial: Follow-up of Apneic Patients by Visio-consultation
A new clinical trial is recruiting patients for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
New recruiting trial: Reflex Therapy of Temporomandibular Dysfunctions
A new clinical trial is recruiting patients for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
New recruiting trial: Effectiveness of a Telerehabilitation Program for Improving Sexual Function and Reducing Pain in Menopausal Women
A new clinical trial is recruiting patients for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
New recruiting trial: Clinical Association Between Obstructive Sleep Apnea, Facial Pigmentation, and Vasovagal Symptoms.
A new clinical trial is recruiting patients for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
New recruiting trial: Effects of Low-Level Laser Therapy on Mouth Opening and Surface Electromyography in Temporomandibular Disorders
A new clinical trial is recruiting patients for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
New recruiting trial: Vit-A-Vision® Clinical Investigation
A new clinical trial is recruiting patients for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
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 best way to ensure my child gets enough nutrition and gains weight?,Should we consider genetic testing such as whole exome sequencing to look for a cause?,What eye problems should we watch for, and how often should eye exams be done?,Are there any skin care routines or products you recommend?,What developmental milestones should we be tracking, and when should we be concerned?,Is there a specialist team or center with experience in this condition?,What is the chance that future children could also be affected?
Common questions about Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
What is Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome?
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome (also known as FACES syndrome) is an extremely rare genetic condition that affects multiple body systems. The name FACES is an acronym that stands for Facial dysmorphism, Anorexia, Cachexia, Eye anomalies, and Skin anomalies. People with this condition are born with distinctive facial features that may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other unusual facial characteristics. A hallmark of the syndrome is severe difficulty gaining weight (anorexia and cachexia), meaning affected individuals t
How is Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome inherited?
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome typically begin?
Typical onset of Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome?
2 specialists and care centers treating Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.