Living with Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
A rare genetic muscle condition from birth with very low muscle tone, mild developmental delay, crossed eyes, and heart wall holes.
Understanding Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Newborns have severe low muscle tone all over the body (hypotonia) with mild developmental delay. They have crossed eyes with weakness of the eye nerve (abducens nerve), and holes in the walls of the heart (septal defects). Boys often have undescended testes. It begins at birth.
Signs & symptoms
GARD doesn't list common symptoms for this condition. It reports these less common features:
- Severe low muscle tone from birth
- Mild developmental delay
- Crossed eyes
- Abducens nerve palsy
- Heart wall holes (septal defects)
- Weak breathing muscles
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in CCDC174 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); Heart and blood vessel specialists (cardiologists)
- 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
It is caused by changes in the CCDC174 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hypotonia, infantile, with psychomotor retardation; ihpmr
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
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