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Hypotonia-failure to thrive-microcephaly syndrome

MedGen UID:: 481292
•Concept ID:: C3279662
•: Disease or Syndrome

Synonyms:	Leukotriene c4 synthase deficiency; LTC4 SYNTHASE DEFICIENCY
SNOMED CT:	Deficiency of leukotriene C4 synthase (717185008); Leukotriene C4 synthase deficiency (717185008); Hypotonia with failure to thrive and microcephaly syndrome (717185008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	LTC4S (5q35.3)

Monarch Initiative:	MONDO:0013539
OMIM®:	614037
Orphanet:	ORPHA79507

Definition

An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. [from SNOMEDCT_US]

Clinical features

From HPO

Failure to thrive in infancy

MedGen UID:: 358083
•Concept ID:: C1867873
•: Finding

See: Feature record | Search on this feature

Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

See: Feature record | Search on this feature

Hypotonia

MedGen UID:: 10133
•Concept ID:: C0026827
•: Finding

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

See: Feature record | Search on this feature

Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

See: Feature record | Search on this feature

Reduced circulating leukotriene C4 concentration

MedGen UID:: 1684684
•Concept ID:: C5139109
•: Finding

An abnormally decreased concentration of leukotriene C4 in the blood circulation.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of metabolism/homeostasis
- Reduced circulating leukotriene C4 concentration
Abnormality of the musculoskeletal system
- Hypotonia
- Microcephaly
Abnormality of the nervous system
- Global developmental delay
Growth abnormality
- Failure to thrive in infancy

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHypotonia-failure to thrive-microcephaly syndrome

Other inborn metabolic disease
- Hypotonia-failure to thrive-microcephaly syndrome

Follow this link to review classifications for Hypotonia-failure to thrive-microcephaly syndrome in Orphanet.

Professional guidelines

PubMed

International Consensus Statement on Obstructive Sleep Apnea.

Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685 Free PMC Article

Recovery and Performance in Sport: Consensus Statement.

Kellmann M, Bertollo M, Bosquet L, Brink M, Coutts AJ, Duffield R, Erlacher D, Halson SL, Hecksteden A, Heidari J, Kallus KW, Meeusen R, Mujika I, Robazza C, Skorski S, Venter R, Beckmann J
Int J Sports Physiol Perform 2018 Feb 1;13(2):240-245. Epub 2018 Feb 19 doi: 10.1123/ijspp.2017-0759. PMID: 29345524

Clinical practice guideline on diagnosis and treatment of hyponatraemia.

Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

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Recent clinical studies

Etiology

Syndromic Hydrocephalus.

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Neurovascular Syndromes.

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Autoinflammatory syndromes.

Meier-Schiesser B, French LE
J Dtsch Dermatol Ges 2021 Mar;19(3):400-426. Epub 2021 Feb 23 doi: 10.1111/ddg.14332. PMID: 33620111

Mast cell activation syndromes.

Akin C
J Allergy Clin Immunol 2017 Aug;140(2):349-355. doi: 10.1016/j.jaci.2017.06.007. PMID: 28780942

Spinal cord syndromes.

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Emerg Med Clin North Am 1997 Aug;15(3):699-711. doi: 10.1016/s0733-8627(05)70326-6. PMID: 9255141

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Diagnosis

Syndromic Craniofacial Disorders.

Tibesar RJ, Scott AR
Facial Plast Surg Clin North Am 2024 Feb;32(1):141-156. Epub 2023 Aug 23 doi: 10.1016/j.fsc.2023.07.002. PMID: 37981410

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Koster MJ, Samec MJ, Warrington KJ
J Clin Rheumatol 2023 Sep 1;29(6):298-306. Epub 2022 Oct 17 doi: 10.1097/RHU.0000000000001905. PMID: 36251488

Autoinflammatory syndromes.

Meier-Schiesser B, French LE
J Dtsch Dermatol Ges 2021 Mar;19(3):400-426. Epub 2021 Feb 23 doi: 10.1111/ddg.14332. PMID: 33620111

Mast cell activation syndromes.

Akin C
J Allergy Clin Immunol 2017 Aug;140(2):349-355. doi: 10.1016/j.jaci.2017.06.007. PMID: 28780942

Spinal cord syndromes.

Wagner R, Jagoda A
Emerg Med Clin North Am 1997 Aug;15(3):699-711. doi: 10.1016/s0733-8627(05)70326-6. PMID: 9255141

See all (420579)

Therapy

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Twiddler's syndrome.

Dharawat R, Saadat M
Acta Med Acad 2016 Nov;45(2):169-170. doi: 10.5644/ama2006-124.174. PMID: 28000494

Drug-induced rheumatic syndromes.

Brogan BL, Olsen NJ
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Prognosis

Aspiration syndromes and associated lung injury: incidence, pathophysiology and management.

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Juvenile acanthosis nigricans.

Sinha S, Schwartz RA
J Am Acad Dermatol 2007 Sep;57(3):502-8. Epub 2007 Jun 25 doi: 10.1016/j.jaad.2006.08.016. PMID: 17592743

Acute aortic syndromes.

Tsai TT, Nienaber CA, Eagle KA
Circulation 2005 Dec 13;112(24):3802-13. doi: 10.1161/CIRCULATIONAHA.105.534198. PMID: 16344407

Epilepsy in children.

Dulac O
Curr Opin Neurol 1994 Apr;7(2):102-6. doi: 10.1097/00019052-199404000-00005. PMID: 8019656

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Clinical prediction guides

Venous Anomalies in Overgrowth Syndromes.

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Molecular Mechanisms Involved in Craniosynostosis.

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How Flu-like Syndromes Contribute to Termination of Weekly Rifapentine-Based TB Preventive Therapy Is Still Poorly Predictable.

Chang KC, Huang SS
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Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
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Recent systematic reviews

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Ahn KH, Park YJ, Hong SC, Lee EH, Lee JS, Oh MJ, Kim HJ
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PLATEAU IRIS--DIAGNOSIS AND TREATMENT.

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Mycoplasma pneumoniae-induced rash and mucositis as a syndrome distinct from Stevens-Johnson syndrome and erythema multiforme: a systematic review.

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MedGen

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Send to:

Links from Gene

Hypotonia-failure to thrive-microcephaly syndrome

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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