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Cohen syndrome(COH1)

MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality
Synonyms: COH1; Hypotonia, obesity, and prominent incisors; Norio syndrome; obesity-hypotonia syndrome; Pepper syndrome; prominent incisors-obesity-hypotonia syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Cohen syndrome (56604005)
 
Gene: VPS13B
Cytogenetic location: 8q22.2
OMIM: 216550

Disease characteristics

Excerpted from the GeneReview: Cohen Syndrome
Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Marni J Falk  |  Heng Wang  |  Elias I Traboulsi   view full author information

Additional description

From GHR
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. Characteristic facial features include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open-mouth appearance. The features of Cohen syndrome vary widely among affected individuals. Additional signs and symptoms in some individuals with this disorder include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in late childhood or adolescence. When obesity is present, it typically develops around the torso, with the arms and legs remaining slender. Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers.  http://ghr.nlm.nih.gov/condition/cohen-syndrome

Clinical features

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.
Abnormality of the palate
MedGen UID:
427798
Concept ID:
CN000169
Finding
Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth).
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
`Hyperplasia` (MPATH:134) of the `gingiva` (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Hypoplasia of the maxilla
MedGen UID:
446348
Concept ID:
CN000307
Finding
Underdevelopment of the `Maxilla` (FMA:9711).
Convex nasal ridge
MedGen UID:
786052
Concept ID:
CN000415
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Macrodontia of permanent maxillary central incisor
MedGen UID:
504551
Concept ID:
CN000635
Finding
`Increased size` (PATO:0000586) of the `maxillary central secondary incisor tooth` (FMA:55722).
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a `reduced number` (PATO:0001997) of `teeth` (FMA:12516) as in `Hypodontia` (HP:0000668) or as in `Anodontia` (HP:0000674).
Aplasia/Hypoplasia of the tongue
MedGen UID:
429539
Concept ID:
CN009127
Finding
Absence or underdevelopment of the `tongue` (FMA:54640).
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the `zygomatic bone` (FMA:52747). That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Visual impairment
MedGen UID:
504469
Concept ID:
CN000473
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Chorioretinal abnormality
MedGen UID:
425000
Concept ID:
CN000498
Finding
An abnormality of the choroid and retina.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A `coloboma` (HP:0000589) of the `iris` (FMA:58235).
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863). Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Preauricular skin tag
MedGen UID:
504427
Concept ID:
CN000359
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear).
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431).
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills.
Cerebellar hypoplasia
MedGen UID:
504799
Concept ID:
CN001210
Finding
Underdevelopment of the `cerebellum` (FMA:67944).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Hypoplasia of the maxilla
MedGen UID:
446348
Concept ID:
CN000307
Finding
Underdevelopment of the `Maxilla` (FMA:9711).
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.
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the `plantar arch` (FMA:43942) is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Sandal gap
MedGen UID:
504975
Concept ID:
CN001674
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Lumbar hyperlordosis
MedGen UID:
505413
Concept ID:
CN002659
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Cubitus valgus
MedGen UID:
428322
Concept ID:
CN002685
Finding
Abnormal positioning in which the elbows are turned out.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the `hip bone` (FMA:16585).
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
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.
Preauricular skin tag
MedGen UID:
504427
Concept ID:
CN000359
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear).
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Coarse hair
MedGen UID:
505157
Concept ID:
CN002002
Finding
Hair shafts are rough in texture.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Abnormality of the mitral valve
MedGen UID:
428274
Concept ID:
CN001486
Finding
An abnormality of the `mitral valve` (FMA:7235).
Mitral valve prolapse
MedGen UID:
504880
Concept ID:
CN001487
Finding
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Neutropenia
MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
An abnormal decrease in the number of neutrophils, a type of white blood cell.
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A `neutrophil` (CL:0000775) abnormality.
Leukopenia
MedGen UID:
504985
Concept ID:
CN001702
Finding
An abnormal decreased number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670).
Laryngomalacia
MedGen UID:
504867
Concept ID:
CN001457
Finding
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Neutropenia
MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
An abnormal decrease in the number of neutrophils, a type of white blood cell.
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A `neutrophil` (CL:0000775) abnormality.
Leukopenia
MedGen UID:
504985
Concept ID:
CN001702
Finding
An abnormal decreased number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Recent clinical studies

Etiology

Douzgou S, Samples JR, Georgoudi N, Petersen MB
Am J Med Genet A 2011 Mar;155A(3):534-9. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33797. [Epub ahead of print] PMID: 21344628
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L
J Med Genet 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. PMID: 20656880
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F
Eur J Hum Genet 2010 Oct;18(10):1133-40. Epub 2010 May 12 doi: 10.1038/ejhg.2010.59. [Epub ahead of print] PMID: 20461111Free PMC Article
Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB
Am J Med Genet A 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239. PMID: 18655112
Chandler KE, Moffett M, Clayton-Smith J, Baker GA
Neuropediatrics 2003 Feb;34(1):7-13. doi: 10.1055/s-2003-38617. PMID: 12690562

Diagnosis

Cokkinos P, Gkouziouta A, Karavolias G, Kariofillis P, Voudris V
Hellenic J Cardiol 2013 Mar-Apr;54(2):143-6. PMID: 23557616
El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L
Eur J Hum Genet 2013 Jul;21(7):736-42. Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.251. [Epub ahead of print] PMID: 23188044Free PMC Article
Vakalopoulos I, Kampantais S, Dimopoulos P, Papastavros C, Katsikas V
BMC Urol 2012 Jan 10;12:2. doi: 10.1186/1471-2490-12-2. [Epub ahead of print] PMID: 22233653Free PMC Article
Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M
J Med Genet 2011 Feb;48(2):136-40. Epub 2010 Oct 4 doi: 10.1136/jmg.2010.082206. [Epub ahead of print] PMID: 20921020
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F
Eur J Hum Genet 2010 Oct;18(10):1133-40. Epub 2010 May 12 doi: 10.1038/ejhg.2010.59. [Epub ahead of print] PMID: 20461111Free PMC Article

Therapy

Cokkinos P, Gkouziouta A, Karavolias G, Kariofillis P, Voudris V
Hellenic J Cardiol 2013 Mar-Apr;54(2):143-6. PMID: 23557616
Orbach-Zinger S, Kaufman E, Donchin Y, Perouansky M
Acta Anaesthesiol Scand 2003 Sep;47(8):1047-9. PMID: 12904202
Seow WK, Bartold PM, Thong YH, Taylor K
Pediatr Dent 1998 Sep-Oct;20(5):350-4. PMID: 9803437

Prognosis

Cokkinos P, Gkouziouta A, Karavolias G, Kariofillis P, Voudris V
Hellenic J Cardiol 2013 Mar-Apr;54(2):143-6. PMID: 23557616
Douzgou S, Samples JR, Georgoudi N, Petersen MB
Am J Med Genet A 2011 Mar;155A(3):534-9. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33797. [Epub ahead of print] PMID: 21344628
Summanen P, Kivitie-Kallio S, Norio R, Raitta C, Kivelä T
Invest Ophthalmol Vis Sci 2002 May;43(5):1686-93. PMID: 11980891
Kivitie-Kallio S, Summanen P, Raitta C, Norio R
Ophthalmology 2000 Sep;107(9):1737-45. PMID: 10964838
Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, Van den Berghe H
Clin Genet 1996 May;49(5):237-41. PMID: 8832131

Clinical prediction guides

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L
Eur J Hum Genet 2013 Jul;21(7):736-42. Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.251. [Epub ahead of print] PMID: 23188044Free PMC Article
Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC
J Biol Chem 2011 Oct 28;286(43):37665-75. Epub 2011 Aug 24 doi: 10.1074/jbc.M111.267971. [Epub ahead of print] PMID: 21865173Free PMC Article
Douzgou S, Samples JR, Georgoudi N, Petersen MB
Am J Med Genet A 2011 Mar;155A(3):534-9. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33797. [Epub ahead of print] PMID: 21344628
Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ
Eur J Hum Genet 2009 Aug;17(8):1076-9. Epub 2009 Feb 4 doi: 10.1038/ejhg.2008.273. [Epub ahead of print] PMID: 19190672Free PMC Article
Chandler KE, Moffett M, Clayton-Smith J, Baker GA
Neuropediatrics 2003 Feb;34(1):7-13. doi: 10.1055/s-2003-38617. PMID: 12690562

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