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Desbuquois syndrome

MedGen UID:
98479
•Concept ID:
C0432242
•
Disease or Syndrome
Synonyms: Desbuquois dysplasia; Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
SNOMED CT: Desbuquois syndrome (254099008); Desbuquois dysplasia (254099008)
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:0015426
OMIM®: 251450
OMIM® Phenotypic series: PS251450
Orphanet: ORPHA1425

Definition

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDesbuquois syndrome
Follow this link to review classifications for Desbuquois syndrome in Orphanet.

Professional guidelines

PubMed

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.
Houdayer C, Ziegler A, Boussion F, Blesson S, Bris C, Toutain A, Biquard F, Guichet A, Bonneau D, Colin E
J Matern Fetal Neonatal Med 2021 Jul;34(13):2217-2220. Epub 2019 Sep 12 doi: 10.1080/14767058.2019.1657084. PMID: 31510824

Recent clinical studies

Etiology

Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene.
Forster KR, Hooper JE, Blakemore KJ, Baschat AA, Hoover-Fong J
Am J Med Genet A 2019 Dec;179(12):2490-2493. Epub 2019 Oct 6 doi: 10.1002/ajmg.a.61372. PMID: 31587486
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K
Clin Genet 2019 Jun;95(6):713-717. Epub 2019 Apr 11 doi: 10.1111/cge.13530. PMID: 30847897
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
Am J Hum Genet 2014 Mar 6;94(3):405-14. Epub 2014 Feb 27 doi: 10.1016/j.ajhg.2014.01.020. PMID: 24581741Free PMC Article
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
Lam WF, Chan HB, Sillence DO
J Paediatr Child Health 2003 Dec;39(9):707-12. doi: 10.1046/j.1440-1754.2003.00252.x. PMID: 14629506
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age.
Jéquier S, Perreault G, Maroteaux P
Pediatr Radiol 1992;22(6):440-2. doi: 10.1007/BF02013506. PMID: 1437369

Diagnosis

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H, Ordak M, Bujalska-Zadrozny M
Int J Mol Sci 2024 Sep 7;25(17) doi: 10.3390/ijms25179700. PMID: 39273648Free PMC Article
Antenatal Phenotype of Desbuquois Dysplasia.
Biji IK, Mahay SB, Saxena R, Verma I, Kumar B, Puri RD
Indian J Pediatr 2023 Jan;90(1):83-86. Epub 2022 Nov 4 doi: 10.1007/s12098-022-04386-8. PMID: 36331722
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.
Rajabi F, Bereshneh AH, Ramezanzadeh M, Garshasbi M
BMC Pediatr 2022 Jan 26;22(1):63. doi: 10.1186/s12887-022-03132-5. PMID: 35081921Free PMC Article
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.
Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S
Pediatr Int 2014 Aug;56(4):e26-9. doi: 10.1111/ped.12383. PMID: 25252066
Desbuquois syndrome: clinical, radiographic, and morphologic characterization.
Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL
Am J Med Genet 1994 Aug 1;52(1):9-18. doi: 10.1002/ajmg.1320520104. PMID: 7977470

Therapy

Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia.
Takata Y, Lenke LG, Kelly MP
Spine Deform 2020 Feb;8(1):135-138. Epub 2020 Jan 16 doi: 10.1007/s43390-020-00030-7. PMID: 31950479

Prognosis

Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia.
Takata Y, Lenke LG, Kelly MP
Spine Deform 2020 Feb;8(1):135-138. Epub 2020 Jan 16 doi: 10.1007/s43390-020-00030-7. PMID: 31950479
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S
J Med Genet 2011 Jan;48(1):32-7. Epub 2010 Oct 30 doi: 10.1136/jmg.2010.080226. PMID: 21037275
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
Lam WF, Chan HB, Sillence DO
J Paediatr Child Health 2003 Dec;39(9):707-12. doi: 10.1046/j.1440-1754.2003.00252.x. PMID: 14629506
Lethality in Desbuquois dysplasia: three new cases.
Hall BD
Pediatr Radiol 2001 Jan;31(1):43-7. doi: 10.1007/s002470000358. PMID: 11200998
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age.
Jéquier S, Perreault G, Maroteaux P
Pediatr Radiol 1992;22(6):440-2. doi: 10.1007/BF02013506. PMID: 1437369

Clinical prediction guides

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.
Kodama K, Takahashi H, Oiji N, Nakano K, Okamura T, Niimi K, Takahashi E, Guo L, Ikegawa S, Furuichi T
FEBS Open Bio 2020 Jun;10(6):1096-1103. Epub 2020 Apr 23 doi: 10.1002/2211-5463.12859. PMID: 32277574Free PMC Article
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.
Paganini C, Monti L, Costantini R, Besio R, Lecci S, Biggiogera M, Tian K, Schwartz JM, Huber C, Cormier-Daire V, Gibson BG, Pirog KA, Forlino A, Rossi A
Matrix Biol 2019 Aug;81:70-90. Epub 2018 Nov 12 doi: 10.1016/j.matbio.2018.11.002. PMID: 30439444Free PMC Article
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V
Am J Hum Genet 2014 Mar 6;94(3):405-14. Epub 2014 Feb 27 doi: 10.1016/j.ajhg.2014.01.020. PMID: 24581741Free PMC Article
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S
J Med Genet 2011 Jan;48(1):32-7. Epub 2010 Oct 30 doi: 10.1136/jmg.2010.080226. PMID: 21037275
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
Lam WF, Chan HB, Sillence DO
J Paediatr Child Health 2003 Dec;39(9):707-12. doi: 10.1046/j.1440-1754.2003.00252.x. PMID: 14629506

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