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X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

MedGen UID:
930586
•Concept ID:
C4304917
•
Disease or Syndrome
Synonym: X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
SNOMED CT: X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (719155005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019418
Orphanet: ORPHA85319

Definition

This syndrome has characteristics of intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

Professional guidelines

PubMed

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S
Genet Med 2021 Jul;23(7):1202-1210. Epub 2021 Mar 5 doi: 10.1038/s41436-021-01119-8. PMID: 33674768Free PMC Article

Recent clinical studies

Etiology

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.
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
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P
Am J Med Genet A 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. PMID: 16700052
A clinical follow-up of British patients with FG syndrome.
Romano C, Baraitser M, Thompson E
Clin Dysmorphol 1994 Apr;3(2):104-14. PMID: 8055129
The FG syndrome: further characterization, report of a third family, and of a sporadic case.
Riccardi VM, Hässler E, Lubinsky MS
Am J Med Genet 1977;1(1):47-58. doi: 10.1002/ajmg.1320010106. PMID: 565138

Diagnosis

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.
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
Menkes disease in affected females: the clinical disease spectrum.
Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U
Am J Med Genet A 2015 Feb;167A(2):417-20. Epub 2014 Nov 26 doi: 10.1002/ajmg.a.36853. PMID: 25428120Free PMC Article
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J
Pediatrics 2008 Feb;121(2):e377-86. doi: 10.1542/peds.2007-1350. PMID: 18245410

Prognosis

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.
Arvio M, Lähdetie J
Am J Med Genet A 2021 Jul;185(7):2164-2167. Epub 2021 May 4 doi: 10.1002/ajmg.a.62213. PMID: 33942960
Menkes disease in affected females: the clinical disease spectrum.
Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U
Am J Med Genet A 2015 Feb;167A(2):417-20. Epub 2014 Nov 26 doi: 10.1002/ajmg.a.36853. PMID: 25428120Free PMC Article
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J
Pediatrics 2008 Feb;121(2):e377-86. doi: 10.1542/peds.2007-1350. PMID: 18245410

Clinical prediction guides

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.
Wu S, Jiang C, Li J, Zhang G, Shen Y, Wang J
BMC Med Genomics 2022 Jun 6;15(1):127. doi: 10.1186/s12920-022-01275-z. PMID: 35668446Free PMC Article
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Chiong MA, Canson DM, Abacan MA, Baluyot MM, Cordero CP, Silao CL
Orphanet J Rare Dis 2017 Jan 11;12(1):7. doi: 10.1186/s13023-016-0558-0. PMID: 28077157Free PMC Article
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome.
Uzak AS, Fryns JP, Dundar M
Genet Couns 2014;25(2):159-69. PMID: 25059014

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