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Lethal congenital contracture syndrome 3(LCCS3)

MedGen UID:
369555
Concept ID:
C1969655
Disease or Syndrome
Synonyms: Lethal congenital contractural syndrome 3; MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
SNOMED CT: Lethal congenital contracture syndrome type 3 (715420005)
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).
 
Gene (location): PIP5K1C (19p13.3)
 
Monarch Initiative: MONDO:0012656
OMIM®: 611369
Orphanet: ORPHA137783

Definition

Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. [from SNOMEDCT_US]

Clinical features

From HPO
Multiple joint contractures
MedGen UID:
57633
Concept ID:
C0158118
Acquired Abnormality
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLethal congenital contracture syndrome 3

Professional guidelines

PubMed

Kirkinen P, Herva R, Leisti J
Prenat Diagn 1987 Mar;7(3):189-96. doi: 10.1002/pd.1970070306. PMID: 3295844

Recent clinical studies

Etiology

Dieterich K, Kimber E, Hall JG
Am J Med Genet C Semin Med Genet 2019 Sep;181(3):345-353. Epub 2019 Aug 13 doi: 10.1002/ajmg.c.31732. PMID: 31410997
Zeng X, Uyar A, Sui D, Donyapour N, Wu D, Dickson A, Hu J
Biochem J 2018 Jul 26;475(14):2257-2269. doi: 10.1042/BCJ20180326. PMID: 29959184Free PMC Article
Rapin I
Handb Clin Neurol 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. PMID: 23622385
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS
Am J Hum Genet 2007 Sep;81(3):530-9. Epub 2007 Jul 24 doi: 10.1086/520771. PMID: 17701898Free PMC Article
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

Diagnosis

Zhang F, Guo H, Zhou X, Deng Z, Xu Q, Wang Q, Yuan H, Luo J
BMC Pediatr 2024 Mar 15;24(1):182. doi: 10.1186/s12887-024-04674-6. PMID: 38491417Free PMC Article
Pradeep I, Gowrishankar K, Shanmugasundaram L
Pediatr Dev Pathol 2022 May-Jun;25(3):327-329. Epub 2021 Dec 27 doi: 10.1177/10935266211065316. PMID: 34961372
Dieterich K, Kimber E, Hall JG
Am J Med Genet C Semin Med Genet 2019 Sep;181(3):345-353. Epub 2019 Aug 13 doi: 10.1002/ajmg.c.31732. PMID: 31410997
Rapin I
Handb Clin Neurol 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. PMID: 23622385
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

Prognosis

Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS
Am J Med Genet A 2023 Feb;191(2):546-553. Epub 2022 Nov 1 doi: 10.1002/ajmg.a.63019. PMID: 36317804
Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J
Neurology 2017 Aug 15;89(7):657-664. Epub 2017 Jul 21 doi: 10.1212/WNL.0000000000004234. PMID: 28733338Free PMC Article
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
Genesio R, De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L
Am J Med Genet A 2004 Aug 1;128A(4):422-8. doi: 10.1002/ajmg.a.30112. PMID: 15264291
Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M
J Child Neurol 2002 Sep;17(9):718-21. doi: 10.1177/088307380201700915. PMID: 12503654

Clinical prediction guides

Zeng X, Uyar A, Sui D, Donyapour N, Wu D, Dickson A, Hu J
Biochem J 2018 Jul 26;475(14):2257-2269. doi: 10.1042/BCJ20180326. PMID: 29959184Free PMC Article
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
Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M, Herva R, Palotie A, Peltonen L
Am J Hum Genet 1998 Aug;63(2):506-16. doi: 10.1086/301968. PMID: 9683599Free PMC Article

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