Display Settings:

Format

Send to:

Choose Destination

17q21.31 microdeletion syndrome(KDVS)

MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
Synonyms: 17q21.31 deletion syndrome; CHROMOSOME 17q21.31 DELETION SYNDROME; Chromosome 17q21.31 microdeletion syndrome; KANSL1-Related Intellectual Disability Syndrome; KDVS; KOOLEN-DE VRIES SYNDROME; Monosomy 17q21.31
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Contiguous gene syndrome
MedGen UID:
383697
Concept ID:
C1855496
Finding
 
Gene: KANSL1
Cytogenetic location: 17q21.31
OMIM®: 610443
Orphanet: ORPHA96169

Disease characteristics

The KANSL1-related intellectual disability syndrome is characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Global psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with the KANSL1-related intellectual disability syndrome function in the mild to moderate range of intellectual disability. Other findings include epilepsy (55%), congenital heart defects (39%), renal and urologic anomalies (37%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
David A Koolen  |  Bert BA de Vries   view full author information

Additional descriptions

From OMIM
Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).  http://www.omim.org/entry/610443
From GHR
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy). Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism). Defects in the walls between the chambers of the heart (septal defects) or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected individuals.  http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome

Clinical features

Small for gestational age
MedGen UID:
44199
Concept ID:
C0024032
Finding
Refers to a fetus or infant who is smaller than expected for the age or gender, or who has a birth weight less than the 10th percentile.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Vesicoureteral reflux
MedGen UID:
332010
Concept ID:
C1835578
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Displacement of the external urethral meatus
MedGen UID:
451918
Concept ID:
CN117519
Finding
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
Prominent nasal bridge
MedGen UID:
324887
Concept ID:
C1837827
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Microdontia
MedGen UID:
342456
Concept ID:
C1850267
Finding
Pear-shaped nose
MedGen UID:
377912
Concept ID:
C1853482
Finding
Coarse facial features
MedGen UID:
381459
Concept ID:
C1854600
Finding
Broad forehead
MedGen UID:
383676
Concept ID:
C1855408
Finding
Widely spaced teeth
MedGen UID:
343347
Concept ID:
C1855414
Finding
Open mouth
MedGen UID:
346627
Concept ID:
C1857628
Finding
Prominent metopic ridge
MedGen UID:
387953
Concept ID:
C1857949
Finding
Cleft palate
MedGen UID:
776579
Concept ID:
C2240378
Finding
Narrow palate
MedGen UID:
504384
Concept ID:
CN000184
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Everted lower lip vermilion
MedGen UID:
504402
Concept ID:
CN000224
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Underdeveloped nasal alae
MedGen UID:
507330
Concept ID:
CN000403
Finding
Thinned, deficient, or excessively arched ala nasi.
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Hypotelorism
MedGen UID:
504517
Concept ID:
CN000563
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Broad chin
MedGen UID:
489449
Concept ID:
CN167549
Finding
Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Hypotelorism
MedGen UID:
504517
Concept ID:
CN000563
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Anteverted ears
MedGen UID:
384047
Concept ID:
C1857055
Finding
Macrotia
MedGen UID:
349900
Concept ID:
C1860838
Finding
Overfolded helix
MedGen UID:
500886
Concept ID:
CN000370
Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
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.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the corpus callosum.
Conspicuously happy disposition
MedGen UID:
451418
Concept ID:
CN116923
Finding
An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.
Wide intermamillary distance
MedGen UID:
428638
Concept ID:
CN005758
Finding
A larger than usual distance between the left and right nipple.
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Arachnodactyly
MedGen UID:
371636
Concept ID:
C1833730
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Prominent fingertip pads
MedGen UID:
341243
Concept ID:
C1848512
Finding
Vertebral segmentation defect
MedGen UID:
338574
Concept ID:
C1848939
Finding
Prominent metopic ridge
MedGen UID:
387953
Concept ID:
C1857949
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Hip dysplasia
MedGen UID:
504822
Concept ID:
CN001267
Finding
The presence of developmental dysplasia of the hip.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Vertebral fusion
MedGen UID:
505419
Concept ID:
CN002669
Finding
A developmental defect leading to the union of two adjacent vertebrae.
Spondylolisthesis
MedGen UID:
505511
Concept ID:
CN002979
Finding
Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Finding
Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Prominent fingertip pads
MedGen UID:
341243
Concept ID:
C1848512
Finding
Dry skin
MedGen UID:
368099
Concept ID:
C1963094
Finding
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Abnormality of hair texture
MedGen UID:
430049
Concept ID:
CN009545
Finding
An abnormality of the texture of the hair.
Nasal speech
MedGen UID:
504873
Concept ID:
CN001466
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum.
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Abnormality of the aortic valve
MedGen UID:
425065
Concept ID:
CN001499
Finding
Any abnormality of the aortic valve.
Bicuspid aortic valve
MedGen UID:
504889
Concept ID:
CN001500
Finding
The presence of an aortic valve with two instead of the normal three cusps (flaps).
Abnormality of the cardiac septa
MedGen UID:
428275
Concept ID:
CN001520
Finding
An anomaly of the intra-atrial or intraventricular septum.
Aortic dilatation
MedGen UID:
504933
Concept ID:
CN001568
Finding
Hypotrophy of the small hand muscles
MedGen UID:
334705
Concept ID:
C1843228
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Arachnodactyly
MedGen UID:
371636
Concept ID:
C1833730
Finding
Hypotrophy of the small hand muscles
MedGen UID:
334705
Concept ID:
C1843228
Finding
Prominent fingertip pads
MedGen UID:
341243
Concept ID:
C1848512
Finding
Narrow palm
MedGen UID:
346628
Concept ID:
C1857632
Finding
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Positional foot deformity
MedGen UID:
425353
Concept ID:
CN005007
Finding
A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROG17q21.31 microdeletion syndrome

Recent clinical studies

Etiology

Borel C, Cheung F, Stewart H, Koolen DA, Phillips C, Thomas NS, Jacobs PA, Eliez S, Sharp AJ
Hum Genet 2012 Sep;131(9):1519-24. Epub 2012 May 30 doi: 10.1007/s00439-012-1180-4. [Epub ahead of print] PMID: 22643917
Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ
Eur J Hum Genet 2012 Jul;20(7):729-33. Epub 2012 Feb 1 doi: 10.1038/ejhg.2012.1. [Epub ahead of print] PMID: 22293690Free PMC Article
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB
Nat Genet 2006 Sep;38(9):999-1001. Epub 2006 Aug 13 doi: 10.1038/ng1853. [Epub ahead of print] PMID: 16906164

Diagnosis

Wray CD
Eur J Med Genet 2013 Jan;56(1):59-61. Epub 2012 Oct 31 doi: 10.1016/j.ejmg.2012.10.011. [Epub ahead of print] PMID: 23123321
Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E
Eur J Med Genet 2012 Aug-Sep;55(8-9):466-71. Epub 2012 May 29 doi: 10.1016/j.ejmg.2012.04.010. [Epub ahead of print] PMID: 22659270
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. [Epub ahead of print] PMID: 21841781Free PMC Article
Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA
Cytogenet Genome Res 2010;129(4):275-9. Epub 2010 Jul 6 doi: 10.1159/000315901. [Epub ahead of print] PMID: 20606400Free PMC Article

Clinical prediction guides

Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D
Am J Med Genet A 2013 Jan;161A(1):21-6. Epub 2012 Nov 20 doi: 10.1002/ajmg.a.35652. [Epub ahead of print] PMID: 23169757
Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE
Am J Hum Genet 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. PMID: 22482802Free PMC Article
El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2011 May-Jun;54(3):369-73. Epub 2011 Mar 30 doi: 10.1016/j.ejmg.2011.03.001. [Epub ahead of print] PMID: 21397059
Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA
Cytogenet Genome Res 2010;129(4):275-9. Epub 2010 Jul 6 doi: 10.1159/000315901. [Epub ahead of print] PMID: 20606400Free PMC Article
Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP
Cytogenet Genome Res 2009;127(1):61-6. Epub 2010 Jan 27 doi: 10.1159/000279260. [Epub ahead of print] PMID: 20110647

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...