Overview
Keratosis follicularis-dwarfism-cerebral atrophy syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:2339). The syndrome combines three main features: keratosis follicularis (a skin condition where small, rough bumps develop around hair follicles), short stature (dwarfism), and cerebral atrophy (shrinkage of brain tissue). Because the brain is affected, individuals with this condition typically experience intellectual disability and may have developmental delays. The skin findings can be present from early life and may worsen over time. Short stature becomes apparent during childhood as growth falls significantly behind what is expected for age. Neurological problems, including seizures and progressive loss of cognitive abilities, may also occur. Because this syndrome is so rare, with only a handful of cases described in the medical literature, there is limited information about its full range of symptoms and natural history. There is currently no cure or specific treatment for this condition. Management focuses on treating individual symptoms, such as using skin care for the follicular keratosis, providing developmental support and therapies for intellectual disability, and managing seizures with appropriate medications. A team of specialists is usually needed to address the various aspects of this multi-system disorder.
Key symptoms:
Rough, bumpy skin around hair folliclesShort stature or dwarfismShrinkage of brain tissueIntellectual disabilityDevelopmental delaysSeizuresPoor growth in childhoodAbnormal facial featuresThin or sparse hairDelayed speech and languageMotor skill difficulties
Clinical phenotype terms (6)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Keratosis follicularis-dwarfism-cerebral atrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Keratosis follicularis-dwarfism-cerebral atrophy 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 Keratosis follicularis-dwarfism-cerebral atrophy syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 is the expected course of this condition for my child?,Are there any genetic tests that could help confirm the diagnosis or identify the cause?,What therapies and early interventions should we start right away?,How should we manage the skin condition at home?,What should we do if a seizure occurs?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see them?
Common questions about Keratosis follicularis-dwarfism-cerebral atrophy syndrome
What is Keratosis follicularis-dwarfism-cerebral atrophy syndrome?
Keratosis follicularis-dwarfism-cerebral atrophy syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:2339). The syndrome combines three main features: keratosis follicularis (a skin condition where small, rough bumps develop around hair follicles), short stature (dwarfism), and cerebral atrophy (shrinkage of brain tissue). Because the brain is affected, individuals with this condition typically experience intellectual disability and may have developmental delays. The skin findings can be present from
How is Keratosis follicularis-dwarfism-cerebral atrophy syndrome inherited?
Keratosis follicularis-dwarfism-cerebral atrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Keratosis follicularis-dwarfism-cerebral atrophy syndrome typically begin?
Typical onset of Keratosis follicularis-dwarfism-cerebral atrophy syndrome is infantile. Age of onset can vary across affected individuals.