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Dyggve-Melchior-Clausen syndrome, X-linked

MedGen UID:
337052
•Concept ID:
C1844654
•
Disease or Syndrome
Synonyms: Dyggve-Melchior-Clausen syndrome X linked; Dyggve-Melchior-Clausen Syndrome, X-Linked; X-linked Dyggve-Melchior-Clausen syndrome
 
Monarch Initiative: MONDO:0010583
OMIM®: 304950

Definition

X-linked form of Dyggve-Melchior-Clausen disease. [from MONDO]

Recent clinical studies

Etiology

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M
J Med Genet 2023 Feb;60(2):204-211. Epub 2022 Apr 27 doi: 10.1136/jmedgenet-2021-108098. PMID: 35477554
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.
Toru HS, Nur BG, Sanhal CY, Mihci E, Mendilcioğlu İ, Yilmaz E, Yilmaz GT, Ozbudak IH, Karaali K, Alper OM, Karaveli FŞ
Fetal Pediatr Pathol 2015;34(5):287-306. Epub 2015 Aug 20 doi: 10.3109/15513815.2015.1068414. PMID: 26376227
Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. PMID: 24035654
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V
Eur J Hum Genet 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. PMID: 15726110
Single-strand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs.
Sztrolovics R, Rimoin DL, Rodriguez E, Roughley RJ
Matrix Biol 1994 Aug;14(4):307-12. doi: 10.1016/0945-053x(94)90196-1. PMID: 7827753

Diagnosis

Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. PMID: 24035654
Dyggve melchior clausen syndrome.
Gupta V, Kohli A, Dewan V
Indian Pediatr 2010 Nov;47(11):973-5. doi: 10.1007/s13312-010-0151-x. PMID: 21149903
Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
Burns C, Powell BR, Hsia YE, Reinker K
J Pediatr Orthop 2003 Jan-Feb;23(1):88-93. PMID: 12499951
The Dyggve-Melchior-Clausen syndrome in Indian siblings.
Winship WS, Rubin DL
Clin Genet 1992 Nov;42(5):240-5. doi: 10.1111/j.1399-0004.1992.tb03248.x. PMID: 1486701
Dyggve-Melchior-Clausen syndrome.
Beighton P
J Med Genet 1990 Aug;27(8):512-5. doi: 10.1136/jmg.27.8.512. PMID: 2213845Free PMC Article

Therapy

Dyggve-Melchior-Clausen syndrome. A histochemical study of the growth plate.
Horton WA, Scott CI
J Bone Joint Surg Am 1982 Mar;64(3):408-15. PMID: 6277958

Prognosis

Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B
Orthop Traumatol Surg Res 2013 Oct;99(6):745-8. Epub 2013 Sep 12 doi: 10.1016/j.otsr.2013.04.006. PMID: 24035654
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V
Hum Mol Genet 2009 Feb 1;18(3):440-53. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn371. PMID: 18996921
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
Am J Med Genet A 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. PMID: 16470731
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V
Hum Mol Genet 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. PMID: 12554689
Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.
Burns C, Powell BR, Hsia YE, Reinker K
J Pediatr Orthop 2003 Jan-Feb;23(1):88-93. PMID: 12499951

Clinical prediction guides

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V
Hum Mol Genet 2009 Feb 1;18(3):440-53. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn371. PMID: 18996921
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
Am J Med Genet A 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. PMID: 16470731
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.
Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC
J Med Genet 2005 Dec;42(12):e70. doi: 10.1136/jmg.2005.033829. PMID: 16326827Free PMC Article
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V
Hum Mol Genet 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. PMID: 12554689
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH
Am J Hum Genet 2002 Oct;71(4):947-51. Epub 2002 Aug 2 doi: 10.1086/342669. PMID: 12161821Free PMC Article

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