Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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. See: This record X-linked recessive inheritance (Orphanet)

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.

See: Search on this feature

Truncal obesity

MedGen UID:: 1637490
•Concept ID:: C4551560
•: Finding

Obesity located preferentially in the trunk of the body as opposed to the extremities.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

See: Feature record | Search on this feature

Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

See: Feature record | Search on this feature

Downslanted palpebral fissures

MedGen UID:: 98391
•Concept ID:: C0423110
•: Finding

The palpebral fissure inclination is more than two standard deviations below the mean.

See: Feature record | Search on this feature

Abnormal facial shape

MedGen UID:: 98409
•Concept ID:: C0424503
•: Finding

An abnormal morphology (form) of the face or its components.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of head or neck
Abnormality of limbs
- Cubitus valgus
Abnormality of the eye
- Deeply set eye
Abnormality of the integument
- Melanocytic nevus
Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system
- Intellectual disability, moderate
- Seizure
Growth abnormality
- Truncal obesity

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Professional guidelines

PubMed

Current and potential new treatment strategies for creatine deficiency syndromes.

Fernandes-Pires G, Braissant O
Mol Genet Metab 2022 Jan;135(1):15-26. Epub 2021 Dec 17 doi: 10.1016/j.ymgme.2021.12.005. PMID: 34972654

ATR-X syndrome: genetics, clinical spectrum, and management.

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

Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.

Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE
Clin Genet 2011 Dec;80(6):600-1. doi: 10.1111/j.1399-0004.2011.01711.x. PMID: 22040220

See all (47)

Recent clinical studies

Etiology

Simpson-Golabi-Behmel syndrome.

Vaisfeld A, Neri G
Am J Med Genet C Semin Med Genet 2024 Dec;196(4):e32088. Epub 2024 May 20 doi: 10.1002/ajmg.c.32088. PMID: 38766979

X-Linked Epilepsies: A Narrative Review.

Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A
Int J Mol Sci 2024 Apr 8;25(7) doi: 10.3390/ijms25074110. PMID: 38612920 Free PMC Article

Epigenetic Causes of Overgrowth Syndromes.

Lui JC, Baron J
J Clin Endocrinol Metab 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. PMID: 37450557 Free PMC Article

Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.

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

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

See all (310)

Diagnosis

X-Linked Epilepsies: A Narrative Review.

Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A
Int J Mol Sci 2024 Apr 8;25(7) doi: 10.3390/ijms25074110. PMID: 38612920 Free PMC Article

MECP2-Related Disorders in Males.

Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J
Int J Mol Sci 2021 Sep 4;22(17) doi: 10.3390/ijms22179610. PMID: 34502518 Free PMC Article

Kabuki Syndrome-Clinical Review with Molecular Aspects.

Boniel S, Szymańska K, Śmigiel R, Szczałuba K
Genes (Basel) 2021 Mar 25;12(4) doi: 10.3390/genes12040468. PMID: 33805950 Free PMC Article

Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.

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

X-linked mental retardation.

Neri G, Chiurazzi P
Adv Genet 1999;41:55-94. doi: 10.1016/s0065-2660(08)60151-0. PMID: 10494617

See all (745)

Therapy

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.

Stewart TM, Foley JR, Holbert CE, Khomutov M, Rastkari N, Tao X, Khomutov AR, Zhai RG, Casero RA Jr
EMBO Mol Med 2023 Nov 8;15(11):e17833. Epub 2023 Sep 13 doi: 10.15252/emmm.202317833. PMID: 37702369 Free PMC Article

X-chromosome inactivation: implications in human disease.

Pereira G, Dória S
J Genet 2021;100 PMID: 34553695

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Krude H, Biebermann H, Schuelke M, Müller TD, Tschöp M
Exp Clin Endocrinol Diabetes 2020 Jun;128(6-07):414-422. Epub 2020 Apr 2 doi: 10.1055/a-1108-1456. PMID: 32242326

Thyroid Hormone Transporters.

Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE
Endocr Rev 2020 Apr 1;41(2) doi: 10.1210/endrev/bnz008. PMID: 31754699

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

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: 28152038 Free PMC Article

See all (93)

Prognosis

E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.

Brunet M, Vargas C, Larrieu D, Torrisani J, Dufresne M
Int J Mol Sci 2020 Nov 12;21(22) doi: 10.3390/ijms21228515. PMID: 33198194 Free PMC Article

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A
Eur J Hum Genet 2019 Apr;27(4):663-668. Epub 2019 Jan 25 doi: 10.1038/s41431-019-0339-z. PMID: 30683921 Free PMC Article

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Mitochondrial cytopathies.

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

See all (221)

Clinical prediction guides

E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.

Brunet M, Vargas C, Larrieu D, Torrisani J, Dufresne M
Int J Mol Sci 2020 Nov 12;21(22) doi: 10.3390/ijms21228515. PMID: 33198194 Free PMC Article

Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies.

Sandweiss AJ, Brandt VL, Zoghbi HY
Lancet Neurol 2020 Aug;19(8):689-698. doi: 10.1016/S1474-4422(20)30217-9. PMID: 32702338

The expanding phenotypes of cohesinopathies: one ring to rule them all!

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: 31516082 Free PMC Article

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A
Eur J Hum Genet 2019 Apr;27(4):663-668. Epub 2019 Jan 25 doi: 10.1038/s41431-019-0339-z. PMID: 30683921 Free PMC Article

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

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: 29180823 Free PMC Article

See all (454)

Recent systematic reviews

Eye and ocular adnexa manifestations of MED12-related disorders.

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

ATR-X syndrome: genetics, clinical spectrum, and management.

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

Oral Manifestations of Rett Syndrome-A Systematic Review.

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: 33525609 Free PMC Article

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

See all (7)

MedGen

National Center for Biotechnology Information

Send to:

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity