Living with Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
A rare genetic condition with intellectual disability, reduced sweating, weak tooth enamel, and thick skin on the palms and soles.
Understanding Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
People have severe intellectual disability with major speech and language problems. They sweat less (hypohidrosis), which can lead to overheating, even though sweat glands look typical. Tooth enamel is underdeveloped and skin on the palms and soles is thickened. A smaller head size often develops after birth. Mild facial differences may also occur. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Reduced sweating (hypohidrosis)
- Weak tooth enamel and cavities
- Thick skin on palms and soles
- Recurrent respiratory infections
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, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in COG6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); 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
Changes in the COG6 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome; shaheen syndrome
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 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
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