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Chromosome 16q22 deletion syndrome

MedGen UID:
482782
Concept ID:
C3281152
Disease or Syndrome
Synonym: CHROMOSOME 16q22 DELETION SYNDROME
 
Monarch Initiative: MONDO:0013798
OMIM®: 614541

Definition

The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. The phenotypic features and deletion sizes are variable, but deletion of 16q22 appears to be critical for manifestations of the syndrome (summary by Fujiwara et al., 1992). [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
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.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Prominent metopic ridge
MedGen UID:
387953
Concept ID:
C1857949
Finding
Vertical bony ridge positioned in the midline of the forehead.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
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).
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
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.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
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.
Wide intermamillary distance
MedGen UID:
473489
Concept ID:
C1827524
Finding
A larger than usual distance between the left and right nipple.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Recent clinical studies

Etiology

Janiszewska-Olszowska J, Gawrych E, Dydyk A, Studniak E, Biaduń-Popławska A, Zajączek S
J Craniomaxillofac Surg 2013 Jan;41(1):e29-32. Epub 2012 Jul 24 doi: 10.1016/j.jcms.2012.06.002. PMID: 22831831
Glasser L, Meloni-Ehrig A, Joseph P, Mendiola J
Am J Hematol 2006 Apr;81(4):262-70. doi: 10.1002/ajh.20550. PMID: 16550514
Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH
Steroids 1996 Apr;61(4):193-6. doi: 10.1016/0039-128x(96)00012-8. PMID: 8732999
Campbell LJ, Challis J, Fok T, Garson OM
Genes Chromosomes Cancer 1991 Jan;3(1):55-61. doi: 10.1002/gcc.2870030110. PMID: 2069909

Diagnosis

Chen X, Li H, Chen C, Zhou L, Xu X, Xiang Y, Tang S
Mol Diagn Ther 2018 Dec;22(6):749-757. doi: 10.1007/s40291-018-0358-4. PMID: 30259421
Kamineni P, Baptiste A, Hassan M, Dawkins FW, Zaidi S, Tefferi A, Lindsey M, Taddesse-Heath L
J Natl Med Assoc 2006 Aug;98(8):1356-60. PMID: 16916138Free PMC Article
Glasser L, Meloni-Ehrig A, Joseph P, Mendiola J
Am J Hematol 2006 Apr;81(4):262-70. doi: 10.1002/ajh.20550. PMID: 16550514
Lo Coco F, Pisegna S, Diverio D
Haematologica 1997 May-Jun;82(3):364-70. PMID: 9234595
Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH
Steroids 1996 Apr;61(4):193-6. doi: 10.1016/0039-128x(96)00012-8. PMID: 8732999

Therapy

Mori T, Goji A, Toda Y, Ito H, Mori K, Kohmoto T, Imoto I, Kagami S
Brain Dev 2019 Nov;41(10):888-893. Epub 2019 Jul 25 doi: 10.1016/j.braindev.2019.07.005. PMID: 31353122
Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH
Steroids 1996 Apr;61(4):193-6. doi: 10.1016/0039-128x(96)00012-8. PMID: 8732999

Prognosis

Janiszewska-Olszowska J, Gawrych E, Dydyk A, Studniak E, Biaduń-Popławska A, Zajączek S
J Craniomaxillofac Surg 2013 Jan;41(1):e29-32. Epub 2012 Jul 24 doi: 10.1016/j.jcms.2012.06.002. PMID: 22831831
Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ
Mol Genet Metab 2010 Jan;99(1):53-7. doi: 10.1016/j.ymgme.2009.09.003. PMID: 19815440
Lo Coco F, Pisegna S, Diverio D
Haematologica 1997 May-Jun;82(3):364-70. PMID: 9234595
Campbell LJ, Challis J, Fok T, Garson OM
Genes Chromosomes Cancer 1991 Jan;3(1):55-61. doi: 10.1002/gcc.2870030110. PMID: 2069909
Ohyashiki K, Ohyashiki JH, Kondo M, Ito H, Toyama K
Leukemia 1988 Jan;2(1):35-40. PMID: 3422328

Clinical prediction guides

Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE
Genome Biol 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9. PMID: 28279197Free PMC Article
Basinko A, Audebert-Bellanger S, Douet-Guilbert N, Le Franc J, Parent P, Quemener S, La Selve P, Bovo C, Morel F, Le Bris MJ, De Braekeleer M
Am J Med Genet A 2011 Sep;155A(9):2281-7. Epub 2011 Aug 10 doi: 10.1002/ajmg.a.34162. PMID: 21834034
Glasser L, Meloni-Ehrig A, Joseph P, Mendiola J
Am J Hematol 2006 Apr;81(4):262-70. doi: 10.1002/ajh.20550. PMID: 16550514
Gao Q, Horwitz M, Roulston D, Hagos F, Zhao N, Freireich EJ, Golomb HM, Olopade OI
Genes Chromosomes Cancer 2000 Jun;28(2):164-72. PMID: 10825001
Fujiwara M, Yoshimoto T, Morita Y, Kamada M
Am J Med Genet 1992 Jun 1;43(3):561-4. doi: 10.1002/ajmg.1320430311. PMID: 1605249

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