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X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

MedGen UID:
1801270
Concept ID:
C5677056
Disease or Syndrome
Synonym: CUBITUS VALGUS WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND UNUSUAL FACIES
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.
 
Monarch Initiative: MONDO:0010332
OMIM®: 300471
Orphanet: ORPHA85280

Definition

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. [from ORDO]

Clinical features

From HPO
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Melanocytic nevus
MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Professional guidelines

PubMed

León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F
Am J Med Genet A 2016 Dec;170(12):3258-3264. Epub 2016 Sep 9 doi: 10.1002/ajmg.a.37873. PMID: 27612164
Verpelli C, Galimberti I, Gomez-Mancilla B, Sala C
Dev Neurobiol 2014 Feb;74(2):197-206. Epub 2013 Jul 19 doi: 10.1002/dneu.22093. PMID: 23695997

Recent clinical studies

Etiology

Lui JC, Baron J
J Clin Endocrinol Metab 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. PMID: 37450557
León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Wang YR, Xu NX, Wang J, Wang XM
World J Pediatr 2019 Dec;15(6):528-535. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00309-4. PMID: 31587141
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E
Brain 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. PMID: 29053855
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687

Diagnosis

Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J
Int J Mol Sci 2021 Sep 4;22(17) doi: 10.3390/ijms22179610. PMID: 34502518Free PMC Article
Boniel S, Szymańska K, Śmigiel R, Szczałuba K
Genes (Basel) 2021 Mar 25;12(4) doi: 10.3390/genes12040468. PMID: 33805950Free PMC Article
Wang YR, Xu NX, Wang J, Wang XM
World J Pediatr 2019 Dec;15(6):528-535. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00309-4. PMID: 31587141
Wu Y, Lyon GJ
Exp Mol Med 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. PMID: 30054457Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

Therapy

Pereira G, Dória S
J Genet 2021;100 PMID: 34553695
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Chakrabarti A, Oehme I, Witt O, Oliveira G, Sippl W, Romier C, Pierce RJ, Jung M
Trends Pharmacol Sci 2015 Jul;36(7):481-92. Epub 2015 May 23 doi: 10.1016/j.tips.2015.04.013. PMID: 26013035
Mégarbané H, Mégarbané A
Orphanet J Rare Dis 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. PMID: 21600032Free PMC Article
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687

Prognosis

Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Vancamp P, Demeneix BA, Remaud S
Front Endocrinol (Lausanne) 2020;11:283. Epub 2020 May 13 doi: 10.3389/fendo.2020.00283. PMID: 32477268Free PMC Article
De Luca C, Race V, Keldermans L, Bauters M, Van Esch H
Br Med Bull 2020 May 15;133(1):36-48. doi: 10.1093/bmb/ldz039. PMID: 32043524
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063

Clinical prediction guides

Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB
Int J Environ Res Public Health 2021 Jan 28;18(3) doi: 10.3390/ijerph18031162. PMID: 33525609Free PMC Article
De Luca C, Race V, Keldermans L, Bauters M, Van Esch H
Br Med Bull 2020 May 15;133(1):36-48. doi: 10.1093/bmb/ldz039. PMID: 32043524
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

Recent systematic reviews

Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E
Seizure 2023 Jan;104:32-37. Epub 2022 Nov 29 doi: 10.1016/j.seizure.2022.11.014. PMID: 36476360
Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F
Eur J Paediatr Neurol 2021 Sep;34:7-13. Epub 2021 Jun 21 doi: 10.1016/j.ejpn.2021.05.013. PMID: 34271245
Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB
Int J Environ Res Public Health 2021 Jan 28;18(3) doi: 10.3390/ijerph18031162. PMID: 33525609Free PMC Article

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