Living with Hypotonia, infantile, with psychomotor retardation and characteristic facies
A rare genetic condition with severe low muscle tone from birth, severe developmental delay, and distinctive facial features.
Understanding Hypotonia, infantile, with psychomotor retardation and characteristic facies
It causes severe, lasting low muscle tone from birth or early infancy and severe developmental delay, with poor or absent speech. Children have difficulty or inability to roll, sit, or walk, profound intellectual disability, and slow weight gain. Other features include a small head, stiffness that grows, crossed eyes, constipation, and distinctive facial features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe low muscle tone (floppy infant)
- Severe global developmental delay
- Absent speech
- Small head (microcephaly)
- Feeding difficulties
- Crossed eyes (strabismus)
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 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hypotonia-speech impairment-severe cognitive delay syndrome; hypotonia, speech impairment, severe cognitive delay syndrome; ihprf; ihprf (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome; ihprf syndrome; infantile hypotonia-psychomotor retardation-characteristic facies syndrome
Patient organizations
- Channeling Hope FoundationHypotonia, infantile, with psychomotor retardation and characteristic facies · United States
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Perspectives from people navigating life with Hypotonia, infantile, with psychomotor retardation and characteristic facies.
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