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Chromosome 17p13.1 deletion syndrome

MedGen UID:
462419
Concept ID:
C3151069
Disease or Syndrome
Synonym: CHROMOSOME 17p13.1 DELETION SYNDROME
 
Monarch Initiative: MONDO:0013415
OMIM®: 613776

Clinical features

From HPO
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Long hallux
MedGen UID:
400514
Concept ID:
C1864375
Finding
Increased length of the big toe.
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Proximal mislocalization of the thumb.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Sleep disturbance
MedGen UID:
52372
Concept ID:
C0037317
Sign or Symptom
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
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.
Hyperactive deep tendon reflexes
MedGen UID:
335355
Concept ID:
C1846176
Finding
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.
Joint laxity
MedGen UID:
39439
Concept ID:
C0086437
Finding
Lack of stability of a joint.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
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).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
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).
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
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.
Short chin
MedGen UID:
784514
Concept ID:
C3697248
Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Inversion of nipple
MedGen UID:
82844
Concept ID:
C0269269
Anatomical Abnormality
The presence of nipples that instead of pointing outward are retracted inwards.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Recent clinical studies

Etiology

Goschzik T, Mynarek M, Doerner E, Schenk A, Spier I, Warmuth-Metz M, Bison B, Obrecht D, Struve N, Kortmann RD, Schmid M, Aretz S, Rutkowski S, Pietsch T
Acta Neuropathol 2022 Dec;144(6):1143-1156. Epub 2022 Oct 1 doi: 10.1007/s00401-022-02505-5. PMID: 36181537Free PMC Article
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Flinn IW, Hillmen P, Montillo M, Nagy Z, Illés Á, Etienne G, Delgado J, Kuss BJ, Tam CS, Gasztonyi Z, Offner F, Lunin S, Bosch F, Davids MS, Lamanna N, Jaeger U, Ghia P, Cymbalista F, Portell CA, Skarbnik AP, Cashen AF, Weaver DT, Kelly VM, Turnbull B, Stilgenbauer S
Blood 2018 Dec 6;132(23):2446-2455. Epub 2018 Oct 4 doi: 10.1182/blood-2018-05-850461. PMID: 30287523Free PMC Article
Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR
Am J Hum Genet 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006. PMID: 25439725Free PMC Article
Lin TS, Ruppert AS, Johnson AJ, Fischer B, Heerema NA, Andritsos LA, Blum KA, Flynn JM, Jones JA, Hu W, Moran ME, Mitchell SM, Smith LL, Wagner AJ, Raymond CA, Schaaf LJ, Phelps MA, Villalona-Calero MA, Grever MR, Byrd JC
J Clin Oncol 2009 Dec 10;27(35):6012-8. Epub 2009 Oct 13 doi: 10.1200/JCO.2009.22.6944. PMID: 19826119Free PMC Article

Diagnosis

Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Yamamoto N, Okazaki S, Kuki I, Yamada N, Nagase S, Nukui M, Inoue T, Kawakita R, Yorifuji T, Hoshina T, Seto T, Yamamoto T, Kawawaki H
Epileptic Disord 2022 Jun 1;24(3):567-571. doi: 10.1684/epd.2022.1416. PMID: 35653098
Sarova I, Brezinova J, Lhotska H, Berkova A, Ransdorfova S, Zemanova Z, Soukupova J, Michalova K
Cancer Genet 2014 May;207(5):221-5. Epub 2014 May 10 doi: 10.1016/j.cancergen.2014.05.001. PMID: 24957271
Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D
Am J Hum Genet 2010 Nov 12;87(5):631-42. doi: 10.1016/j.ajhg.2010.10.007. PMID: 21056402Free PMC Article

Therapy

Goschzik T, Mynarek M, Doerner E, Schenk A, Spier I, Warmuth-Metz M, Bison B, Obrecht D, Struve N, Kortmann RD, Schmid M, Aretz S, Rutkowski S, Pietsch T
Acta Neuropathol 2022 Dec;144(6):1143-1156. Epub 2022 Oct 1 doi: 10.1007/s00401-022-02505-5. PMID: 36181537Free PMC Article
Flinn IW, Hillmen P, Montillo M, Nagy Z, Illés Á, Etienne G, Delgado J, Kuss BJ, Tam CS, Gasztonyi Z, Offner F, Lunin S, Bosch F, Davids MS, Lamanna N, Jaeger U, Ghia P, Cymbalista F, Portell CA, Skarbnik AP, Cashen AF, Weaver DT, Kelly VM, Turnbull B, Stilgenbauer S
Blood 2018 Dec 6;132(23):2446-2455. Epub 2018 Oct 4 doi: 10.1182/blood-2018-05-850461. PMID: 30287523Free PMC Article
Lin TS, Ruppert AS, Johnson AJ, Fischer B, Heerema NA, Andritsos LA, Blum KA, Flynn JM, Jones JA, Hu W, Moran ME, Mitchell SM, Smith LL, Wagner AJ, Raymond CA, Schaaf LJ, Phelps MA, Villalona-Calero MA, Grever MR, Byrd JC
J Clin Oncol 2009 Dec 10;27(35):6012-8. Epub 2009 Oct 13 doi: 10.1200/JCO.2009.22.6944. PMID: 19826119Free PMC Article

Prognosis

Goschzik T, Mynarek M, Doerner E, Schenk A, Spier I, Warmuth-Metz M, Bison B, Obrecht D, Struve N, Kortmann RD, Schmid M, Aretz S, Rutkowski S, Pietsch T
Acta Neuropathol 2022 Dec;144(6):1143-1156. Epub 2022 Oct 1 doi: 10.1007/s00401-022-02505-5. PMID: 36181537Free PMC Article
Flinn IW, Hillmen P, Montillo M, Nagy Z, Illés Á, Etienne G, Delgado J, Kuss BJ, Tam CS, Gasztonyi Z, Offner F, Lunin S, Bosch F, Davids MS, Lamanna N, Jaeger U, Ghia P, Cymbalista F, Portell CA, Skarbnik AP, Cashen AF, Weaver DT, Kelly VM, Turnbull B, Stilgenbauer S
Blood 2018 Dec 6;132(23):2446-2455. Epub 2018 Oct 4 doi: 10.1182/blood-2018-05-850461. PMID: 30287523Free PMC Article

Clinical prediction guides

Quinn MC, Wojnarowicz PM, Pickett A, Provencher DM, Mes-Masson AM, Davis EC, Tonin PN
Int J Oncol 2013 Mar;42(3):912-20. Epub 2013 Jan 23 doi: 10.3892/ijo.2013.1797. PMID: 23354471

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