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Chromosome 22q11.2 deletion syndrome, distal

MedGen UID:
395634
Concept ID:
C2678480
Disease or Syndrome
Synonym: 22q11.2 Distal Deletion Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0012740
OMIM®: 611867
Orphanet: ORPHA261330

Definition

A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>. [from ORDO]

Clinical features

From HPO
Truncus arteriosus
MedGen UID:
892804
Concept ID:
C4020867
Congenital Abnormality
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Anatomical Abnormality
Any structural anomaly of the heart and blood vessels.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
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  
  • CROGVChromosome 22q11.2 deletion syndrome, distal
Follow this link to review classifications for Chromosome 22q11.2 deletion syndrome, distal in Orphanet.

Recent clinical studies

Etiology

Arioka Y, Shishido E, Kushima I, Suzuki T, Saito R, Aiba A, Mori D, Ozaki N
EBioMedicine 2021 Jan;63:103138. Epub 2020 Dec 17 doi: 10.1016/j.ebiom.2020.103138. PMID: 33341442Free PMC Article
Yang C, Ge J, Zhang R, Chen C, Yi L, Shen L
Heart Surg Forum 2020 Aug 3;23(5):E549-E554. doi: 10.1532/hsf.2957. PMID: 32990587
Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM
Epilepsia 2017 Jun;58(6):1095-1101. Epub 2017 Apr 27 doi: 10.1111/epi.13748. PMID: 28448680
Napoli E, Tassone F, Wong S, Angkustsiri K, Simon TJ, Song G, Giulivi C
J Biol Chem 2015 Sep 18;290(38):23240-53. Epub 2015 Jul 28 doi: 10.1074/jbc.M115.672360. PMID: 26221035Free PMC Article
Stoll G, Pietiläinen OPH, Linder B, Suvisaari J, Brosi C, Hennah W, Leppä V, Torniainen M, Ripatti S, Ala-Mello S, Plöttner O, Rehnström K, Tuulio-Henriksson A, Varilo T, Tallila J, Kristiansson K, Isohanni M, Kaprio J, Eriksson JG, Raitakari OT, Lehtimäki T, Jarvelin MR, Salomaa V, Hurles M, Stefansson H, Peltonen L, Sullivan PF, Paunio T, Lönnqvist J, Daly MJ, Fischer U, Freimer NB, Palotie A
Nat Neurosci 2013 Sep;16(9):1228-1237. Epub 2013 Aug 4 doi: 10.1038/nn.3484. PMID: 23912948Free PMC Article

Diagnosis

Yang C, Ge J, Zhang R, Chen C, Yi L, Shen L
Heart Surg Forum 2020 Aug 3;23(5):E549-E554. doi: 10.1532/hsf.2957. PMID: 32990587
Souto Filho JTD, Ribeiro HAA, Fassbender IPB, Ribeiro JMMC, Ferreira Júnior WDS, Figueiredo LCS
Blood Coagul Fibrinolysis 2019 Dec;30(8):423-425. doi: 10.1097/MBC.0000000000000849. PMID: 31738289
Bohm LA, Zhou TC, Mingo TJ, Dugan SL, Patterson RJ, Sidman JD, Roby BB
Am J Med Genet A 2017 Aug;173(8):2158-2165. Epub 2017 Jun 3 doi: 10.1002/ajmg.a.38304. PMID: 28577347
Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM
Epilepsia 2017 Jun;58(6):1095-1101. Epub 2017 Apr 27 doi: 10.1111/epi.13748. PMID: 28448680
Zhang D, Ighaniyan S, Stathopoulos L, Rollo B, Landman K, Hutson J, Newgreen D
Birth Defects Res C Embryo Today 2014 Sep;102(3):275-98. Epub 2014 Sep 16 doi: 10.1002/bdrc.21081. PMID: 25227568

Therapy

Yang C, Ge J, Zhang R, Chen C, Yi L, Shen L
Heart Surg Forum 2020 Aug 3;23(5):E549-E554. doi: 10.1532/hsf.2957. PMID: 32990587
Harrell W, Eack S, Hooper SR, Keshavan MS, Bonner MS, Schoch K, Shashi V
Res Dev Disabil 2013 Sep;34(9):2606-13. Epub 2013 Jun 7 doi: 10.1016/j.ridd.2013.05.009. PMID: 23751300Free PMC Article

Prognosis

Yang C, Ge J, Zhang R, Chen C, Yi L, Shen L
Heart Surg Forum 2020 Aug 3;23(5):E549-E554. doi: 10.1532/hsf.2957. PMID: 32990587
Thompson CA, Karelis J, Middleton FA, Gentile K, Coman IL, Radoeva PD, Mehta R, Fremont WP, Antshel KM, Faraone SV, Kates WR
Am J Med Genet B Neuropsychiatr Genet 2017 Apr;174(3):295-314. Epub 2017 Jan 31 doi: 10.1002/ajmg.b.32515. PMID: 28139055
Das Chakraborty R, Bernal AJ, Schoch K, Howard TD, Ip EH, Hooper SR, Keshavan MS, Jirtle RL, Shashi V
Transl Psychiatry 2012 Apr 24;2(4):e105. doi: 10.1038/tp.2012.31. PMID: 22832905Free PMC Article

Clinical prediction guides

Yang C, Ge J, Zhang R, Chen C, Yi L, Shen L
Heart Surg Forum 2020 Aug 3;23(5):E549-E554. doi: 10.1532/hsf.2957. PMID: 32990587
Thompson CA, Karelis J, Middleton FA, Gentile K, Coman IL, Radoeva PD, Mehta R, Fremont WP, Antshel KM, Faraone SV, Kates WR
Am J Med Genet B Neuropsychiatr Genet 2017 Apr;174(3):295-314. Epub 2017 Jan 31 doi: 10.1002/ajmg.b.32515. PMID: 28139055
Klaassen P, Duijff S, Swanenburg de Veye H, Beemer F, Sinnema G, Breetvelt E, Schappin R, Vorstman J
Am J Med Genet B Neuropsychiatr Genet 2016 Sep;171(6):790-6. Epub 2016 Mar 8 doi: 10.1002/ajmg.b.32441. PMID: 26953189
Andrade DM, Krings T, Chow EW, Kiehl TR, Bassett AS
Can J Neurol Sci 2013 Sep;40(5):652-6. doi: 10.1017/s0317167100014876. PMID: 23968937Free PMC Article
Das Chakraborty R, Bernal AJ, Schoch K, Howard TD, Ip EH, Hooper SR, Keshavan MS, Jirtle RL, Shashi V
Transl Psychiatry 2012 Apr 24;2(4):e105. doi: 10.1038/tp.2012.31. PMID: 22832905Free PMC Article

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