Living with Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
A genetic condition that affects thinking and learning, causes seizures, and changes how the fingers, toes, face and anus form.
Understanding Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
People with this condition have severe intellectual disability and seizures (epilepsy). The tips of the fingers and toes are small or missing, and the anus sits further forward than usual. Other features can include a cleft palate, low muscle tone, a heart wall opening, and distinctive facial features. Signs begin in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Seizures
- Small or missing tips of fingers and toes
- Anus placed further forward than usual
- Cleft palate
- Low muscle tone (hypotonia)
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 and genetic 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)
- 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 says this condition is passed down when a child inherits a changed copy of a gene from each parent (autosomal recessive). It appears to involve two regions of DNA, one on chromosome 1 and one on chromosome 14.
Also known as: severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia 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-epilepsy-anal anomalies-distal phalangeal hypoplasia.
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