Overview
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (sometimes abbreviated as SOFT syndrome or referred to by its descriptive name) is an extremely rare genetic condition that affects several parts of the body. The hallmark features include shorter-than-expected height (short stature), abnormalities of the nails (onychodysplasia), distinctive facial features (facial dysmorphism), and thin or sparse hair (hypotrichosis). Children with this condition are often noticeably smaller than their peers from early in life, and their nails may appear underdeveloped, thin, or abnormally shaped. Facial features can include a broad forehead, a flat or underdeveloped midface, a small nose, and other subtle differences. Hair on the scalp and body tends to be sparse and fine. Because this syndrome is so rare, the full range of symptoms and their severity can vary from person to person. Some individuals may have additional findings such as mild developmental differences or dental abnormalities. There is currently no cure for this condition, and treatment focuses on managing individual symptoms. Growth hormone therapy may be considered for short stature, and dermatological care can help with nail and hair concerns. Regular follow-up with a team of specialists is important to monitor growth, development, and any emerging health issues. Research into the genetic basis of this syndrome is ongoing, and genetic counseling is recommended for affected families.
Also known as:
Key symptoms:
Short stature or growth delayAbnormal or underdeveloped nailsThin or sparse hair on the scalpSparse body hairDistinctive facial featuresBroad or prominent foreheadFlat or underdeveloped midfaceSmall noseDental abnormalitiesThin or dry skinDelayed bone age
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsMastelli S.r.l — NA
University of Health Sciences Lahore — NA
China Medical University Hospital — NA
Istanbul Medipol University Hospital — NA
Research Institute for Physical Chemical Problems of the Belarusian State University — PHASE2, PHASE3
DJO UK Ltd — NA
Riphah International University — NA
University of Chicago
Nyxoah S.A. — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome at this time.
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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 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.
Community
No community posts yet. Be the first to share your experience with Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.
Start the conversation →Latest news about Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Disease timeline:
New recruiting trial: Comparison of IASTM and Muscle Energy Technique in Patellofemoral Pain Syndrome.
A new clinical trial is recruiting patients for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
New recruiting trial: Performance and Safety of LightForce® Therapy Lasers on Shoulder Soft Tissue Inflammation Pain Reduction
A new clinical trial is recruiting patients for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
New recruiting trial: IASTM Effects on Pain, Functionality, and Proprioception in Subacromial Impingement
A new clinical trial is recruiting patients for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
New recruiting trial: The All Ireland Infectious Diseases Cohort Project
A new clinical trial is recruiting patients for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis 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 specific genetic test confirmed my child's diagnosis, and what does the result mean?,Would growth hormone therapy be appropriate for my child, and what results can we expect?,How often should my child's growth and development be monitored?,Are there any treatments available for the nail or hair problems?,Should other family members be tested for this condition?,What specialists should be part of my child's care team?,Are there any clinical trials or research studies we could participate in?
Common questions about Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
What is Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome?
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (sometimes abbreviated as SOFT syndrome or referred to by its descriptive name) is an extremely rare genetic condition that affects several parts of the body. The hallmark features include shorter-than-expected height (short stature), abnormalities of the nails (onychodysplasia), distinctive facial features (facial dysmorphism), and thin or sparse hair (hypotrichosis). Children with this condition are often noticeably smaller than their peers from early in life, and their nails may appear underdeveloped, thin, or abnormall
How is Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome inherited?
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome typically begin?
Typical onset of Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome?
2 specialists and care centers treating Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.