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de Barsy syndrome(ARCL3A)

MedGen UID:
82794
•Concept ID:
C0268354
•
Disease or Syndrome
Synonyms: ARCL3A; Corneal clouding cutis laxa mental retardation; Cutis laxa growth deficiency syndrome; Cutis laxa-corneal clouding-oligophrenia syndrome; Progeroid syndrome De Barsy type; Progeroid syndrome of De Barsy
SNOMED CT: de Barsy syndrome (238826008); Cutis laxa-corneal clouding-oligophrenia syndrome (59252009); de Barsey syndrome (59252009); Progeroid syndrome of de Barsey (59252009); de Barsey-Moens-Dierckx syndrome (59252009); Cutis laxa, corneal clouding AND mental retardation (59252009)
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)
 
Monarch Initiative: MONDO:0017569
Orphanet: ORPHA2962

Definition

A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVde Barsy syndrome
Follow this link to review classifications for de Barsy syndrome in Orphanet.

Professional guidelines

PubMed

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636

Recent clinical studies

Etiology

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Beyens A, Pottie L, Sips P, Callewaert B
Adv Exp Med Biol 2021;1348:273-309. doi: 10.1007/978-3-030-80614-9_13. PMID: 34807425
Clinical implications of de Barsy syndrome.
Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP
Am J Med Genet A 2011 Aug;155A(8):1848-56. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34057. PMID: 21739576
Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome).
Pontz BF, Zepp F, Stöss H
Eur J Pediatr 1986 Oct;145(5):428-34. doi: 10.1007/BF00439254. PMID: 3491758

Diagnosis

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.
Bhate M, Fernandes M, Senthil S, Bathula S, Beilur S
Ophthalmic Genet 2023 Oct;44(5):509-511. Epub 2022 Dec 16 doi: 10.1080/13816810.2022.2154810. PMID: 36524384
Clinical implications of de Barsy syndrome.
Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179
Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805
De Barsy syndrome: a review of the phenotype.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G
Clin Dysmorphol 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. PMID: 18388779
The De Barsy syndrome.
Guerra D, Fornieri C, Bacchelli B, Lugli L, Torelli P, Balli F, Ferrari P
J Cutan Pathol 2004 Oct;31(9):616-24. doi: 10.1111/j.0303-6987.2004.00241.x. PMID: 15330994

Therapy

Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805

Prognosis

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U
Mol Genet Metab 2014 Aug;112(4):310-6. Epub 2014 May 21 doi: 10.1016/j.ymgme.2014.05.003. PMID: 24913064
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP
Am J Med Genet A 2011 Aug;155A(8):1848-56. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34057. PMID: 21739576
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.
Jukkola A, Kauppila S, Risteli L, Vuopala K, Risteli J, Leisti J, Pajunen L
J Med Genet 1998 Jun;35(6):513-8. doi: 10.1136/jmg.35.6.513. PMID: 9643297Free PMC Article

Clinical prediction guides

Clinical implications of de Barsy syndrome.
Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Lin DS, Chang JH, Liu HL, Wei CH, Yeung CY, Ho CS, Shu CH, Chiang MF, Chuang CK, Huang YW, Wu TY, Jian YR, Huang ZD, Lin SP
Am J Med Genet A 2011 Dec;155A(12):3095-9. Epub 2011 Nov 3 doi: 10.1002/ajmg.a.34326. PMID: 22052856
Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805
The De Barsy syndrome.
Guerra D, Fornieri C, Bacchelli B, Lugli L, Torelli P, Balli F, Ferrari P
J Cutan Pathol 2004 Oct;31(9):616-24. doi: 10.1111/j.0303-6987.2004.00241.x. PMID: 15330994

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