Living with Hypotonia-failure to thrive-microcephaly syndrome
An extremely rare nervous system and metabolic condition with low muscle tone, delayed development, slow weight gain, and a small head.
Understanding Hypotonia-failure to thrive-microcephaly syndrome
It causes low muscle tone (hypotonia), delayed development, slow weight gain, and a small head (microcephaly). It is seen in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Low muscle tone (hypotonia)
- Delayed development
- Slow weight gain
- Small head (microcephaly)
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 genetic specialists.
- 3Consider genetic testing
Changes in LTC4S 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
- 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
Changes in the LTC4S gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of leukotriene c4 synthase; hypotonia with failure to thrive and microcephaly syndrome; leukotriene c4 synthase deficiency; ltc4 synthase deficiency
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 Hypotonia-failure to thrive-microcephaly syndrome.
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