Living with Keratosis follicularis-dwarfism-cerebral atrophy syndrome
An extremely rare genetic syndrome with rough skin bumps, very short height, a small head, and brain shrinkage.
Understanding Keratosis follicularis-dwarfism-cerebral atrophy syndrome
People have widespread rough skin bumps around hair follicles (keratosis follicularis), severe short stature with a proportionate body, and shrinkage of the brain (cerebral atrophy). Hair loss on the scalp, eyebrows, and eyelashes and a small head are also seen. Intellectual disability, hernia in the groin, and epilepsy may occur. GARD notes no further descriptions in the medical literature since 1974. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widespread rough skin bumps (keratosis follicularis)
- Severe short stature
- Brain shrinkage (cerebral atrophy)
- Small head (microcephaly)
- Missing eyebrows
- Missing eyelashes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It lists X-linked inheritance, meaning the gene is on the X chromosome.
Also known as: dwarfism, cerebral atrophy and generalized keratosis follicularis
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Keratosis follicularis-dwarfism-cerebral atrophy syndrome.
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