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Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Features include: Microcephaly, Failure to thrive in infancy, Low muscle tone (hypotonia), and Global developmental delay and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Microcephaly |
Growth and development |
Biomarker and diagnostic research for hypotonia-failure to thrive-microcephaly syndrome has been reported in the published literature.
1 FDA-approved treatment is available for hypotonia-failure to thrive-microcephaly syndrome, including LEVOCARNITINE (CARNITOR, approved 1985).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hypotonia-failure to thrive-microcephaly syndrome.
204 publications have been identified in PubMed for hypotonia-failure to thrive-microcephaly syndrome. Research spans Review / Meta-Analysis (58%), Basic Science / Preclinical (14%), and Case Report / Case Series (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 105 | 58% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Failure to thrive in infancy |
Muscles | 1 | Low muscle tone (hypotonia) |
Brain and nerves | 1 | Global developmental delay |
CARNITOR SF
LEVOCARNITINE |
— |
1986 |
Available |
CARNITOR | LEVOCARNITINE | — | 1985 | Available |
Gene therapy approaches for hypotonia-failure to thrive-microcephaly syndrome have been reported in the published literature.
View trials for hypotonia-failure to thrive-microcephaly syndrome
Laboratory research
25 |
14% |
Patient case studies | 18 | 10% |
Disease patterns and progression | 18 | 10% |
Other research | 9 | 5% |
Testing and diagnosis research | 3 | 2% |
Clinical study results | 2 | 1% |
New treatment approaches | 1 | 1% |
Asghar E (2026). [PMID: 41401403](https://pubmed.ncbi.nlm.nih.gov/41401403/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Curr Opin Gastroenterol*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Basic Science / Preclinical]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]
Avelino-Silva TJ (2026). [PMID: 41591773](https://pubmed.ncbi.nlm.nih.gov/41591773/). *JAMA Netw Open*. [Epidemiology / Natural History]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Anandan S (2026). [PMID: 41818118](https://pubmed.ncbi.nlm.nih.gov/41818118/). *J Assoc Physicians India*. [Case Report / Case Series]
Vialle R (2026). [PMID: 40976314](https://pubmed.ncbi.nlm.nih.gov/40976314/). *Orthop Traumatol Surg Res*. [Review / Meta-Analysis]
AI-curated news mentioning hypotonia-failure to thrive-microcephaly syndrome
Updated Mar 16, 2026
Rare Disease Day 2026 highlights the ongoing struggles of families facing undiagnosed conditions, including hydrocephalus and Dandy-Walker syndrome. The event emphasizes the need for awareness and support for those dealing with complex health challenges.