Living with Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
A severe condition, also called UNC80 deficiency, with nervous system and developmental problems from birth that do not usually get worse over time.
Understanding Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
The condition does not typically get worse over time. Development is slow and limited, but skills that are learned are usually kept. People have profound intellectual disability and weak muscle tone, sometimes with stiff arms and legs. Most never learn to walk. Speech is generally absent. Feeding difficulties, seizures, eye movement problems, and a high-pitched cry can occur. Growth is slow after birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound developmental delay
- Absent speech
- Weak muscle tone (hypotonia)
- Small head (microcephaly)
- Crossed eyes
- Feeding difficulties
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Channeling Hope 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 lists autosomal recessive inheritance. It doesn't name a gene here, though the summary describes UNC80 deficiency.
Also known as: hypotonia, infantile, with psychomotor retardation and characteristic facies 2; ihprf2; hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in unc80; hypotonia, infantile, with psychomotor retardation and characteristic facies type 2; ihprf2; unc80 hypotonia, infantile, with psychomotor retardation and characteristic facies
Patient organizations
- Channeling Hope FoundationHypotonia, infantile, with psychomotor retardation and characteristic facies 2 · United States
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