Living with Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
A rare genetic condition with profound learning and developmental challenges, low muscle tone, crossed eyes and joint differences.
Understanding Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
People with this condition have profound intellectual disability and low muscle tone (hypotonia). They may have crossed eyes (strabismus), trouble fixing their gaze, coarse facial features, very flexible finger joints, stiff elbow joints, and flat feet that turn outward. Seizures and aggressive behavior during sleep have also been reported. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Low muscle tone (hypotonia)
- Crossed eyes (strabismus)
- Coarse facial features
- Seizures
- Trouble sleeping
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in P4HTM 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 lists changes in the P4HTM gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
Patient organizations
Rare-disease groups that can help
- 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 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome.
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