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Lethal congenital contracture syndrome 6(LCCS6)

MedGen UID:
864123
•Concept ID:
C4015686
•
Disease or Syndrome
Synonym: LCCS6
 
Gene (location): ZBTB42 (14q32.33)
 
Monarch Initiative: MONDO:0014549
OMIM®: 616248

Definition

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene. [from MONDO]

Clinical features

From HPO
Congenital contracture
MedGen UID:
83066
•Concept ID:
C0332878
•
Congenital Abnormality
One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
See: Feature record | Search on this feature
Macrocephaly
MedGen UID:
745757
•Concept ID:
C2243051
•
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
See: Feature record | Search on this feature
Arthrogryposis multiplex congenita
MedGen UID:
1830310
•Concept ID:
C5779613
•
Disease or Syndrome
Multiple congenital contractures in different body areas.
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
Decreased fetal movement
MedGen UID:
68618
•Concept ID:
C0235659
•
Finding
An abnormal reduction in quantity or strength of fetal movements.
See: Feature record | Search on this feature
Absence of stomach bubble on fetal sonography
MedGen UID:
869203
•Concept ID:
C4023625
•
Finding
By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
Conant A, Curiel J, Pizzino A, Sabetrasekh P, Murphy J, Bloom M, Evans SH, Helman G, Taft RJ, Simons C, Whitehead MT, Moore SA, Vanderver A
J Child Neurol 2018 Sep;33(10):642-650. Epub 2018 Jun 8 doi: 10.1177/0883073818776157. PMID: 29882456Free PMC Article
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
Am J Hum Genet 2007 Sep;81(3):589-95. Epub 2007 Jul 24 doi: 10.1086/520770. PMID: 17701904Free PMC Article
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J
Am J Med Genet A 2006 Sep 1;140A(17):1834-9. doi: 10.1002/ajmg.a.31381. PMID: 16892327
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.
Vuopala K, Leisti J, Herva R
Neuropediatrics 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. PMID: 7770128

Diagnosis

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ
Neurology 2016 Sep 13;87(11):1131-9. Epub 2016 Aug 24 doi: 10.1212/WNL.0000000000003095. PMID: 27558372Free PMC Article
Spine deformities in rare congenital syndromes: clinical issues.
Campbell RM Jr
Spine (Phila Pa 1976) 2009 Aug 1;34(17):1815-27. doi: 10.1097/BRS.0b013e3181ab64e9. PMID: 19644333
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J
Am J Med Genet A 2006 Sep 1;140A(17):1834-9. doi: 10.1002/ajmg.a.31381. PMID: 16892327
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.
Vuopala K, Leisti J, Herva R
Neuropediatrics 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. PMID: 7770128
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM
Am J Med Genet 1984 Apr;17(4):809-26. doi: 10.1002/ajmg.1320170411. PMID: 6720746

Prognosis

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Agolini E, Cherchi C, Bellacchio E, Martinelli D, Cocciadiferro D, Cutrera R, Chiarini Testa MB, Barone C, Bianca S, Novelli A
Clin Genet 2020 Apr;97(4):649-654. Epub 2020 Feb 20 doi: 10.1111/cge.13691. PMID: 31846058
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T, Vuopala K, Kokkonen H, Ignatius J, Valkama M, Moilanen JS, Fahiminiya S, Majewski J, Hinttala R, Uusimaa J
Clin Genet 2018 Jan;93(1):173-177. Epub 2017 Nov 24 doi: 10.1111/cge.13086. PMID: 28657126
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ
Neurology 2016 Sep 13;87(11):1131-9. Epub 2016 Aug 24 doi: 10.1212/WNL.0000000000003095. PMID: 27558372Free PMC Article
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
Am J Hum Genet 2007 Sep;81(3):589-95. Epub 2007 Jul 24 doi: 10.1086/520770. PMID: 17701904Free PMC Article

Clinical prediction guides

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Agolini E, Cherchi C, Bellacchio E, Martinelli D, Cocciadiferro D, Cutrera R, Chiarini Testa MB, Barone C, Bianca S, Novelli A
Clin Genet 2020 Apr;97(4):649-654. Epub 2020 Feb 20 doi: 10.1111/cge.13691. PMID: 31846058
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
Am J Hum Genet 2007 Sep;81(3):589-95. Epub 2007 Jul 24 doi: 10.1086/520770. PMID: 17701904Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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