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Cohen syndrome(COH1)

MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality; Disease or Syndrome
Synonyms: COH1; Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness; Pepper syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Cohen syndrome (56604005)
 
Gene (location): VPS13B (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]
Authors:
Heng Wang  |  Marni J Falk  |  Christine Wensel, et. al.   view full author information

Additional descriptions

From OMIM
Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).  http://www.omim.org/entry/216550
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.  https://ghr.nlm.nih.gov/condition/cohen-syndrome

Clinical features

Delayed Puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
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.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Narrow palm
MedGen UID:
346628
Concept ID:
C1857632
Finding
For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Thick corpus callosum
MedGen UID:
371993
Concept ID:
C1835194
Finding
Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.
Facial hypotonia
MedGen UID:
336889
Concept ID:
C1845251
Finding
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Finding
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Spatial Concept
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Bushy eyebrows
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.

Recent clinical studies

Etiology

Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L
Hum Mol Genet 2015 Dec 1;24(23):6603-13. Epub 2015 Sep 10 doi: 10.1093/hmg/ddv366. PMID: 26358774
Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L
BMC Med Genet 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0. PMID: 26104215Free PMC Article
Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. PMID: 25502226Free 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. PMID: 21344628
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. PMID: 20461111Free PMC Article

Diagnosis

Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L
Hum Mol Genet 2015 Dec 1;24(23):6603-13. Epub 2015 Sep 10 doi: 10.1093/hmg/ddv366. PMID: 26358774
Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. PMID: 25502226Free PMC Article
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. PMID: 23188044Free PMC Article
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. PMID: 20461111Free PMC Article

Therapy

Selmi C
Clin Rev Allergy Immunol 2014 Aug;47(1):1-5. doi: 10.1007/s12016-014-8441-z. PMID: 25086643
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

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. PMID: 25502226Free PMC Article
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. 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

Clinical prediction guides

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. PMID: 25502226Free PMC Article
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. 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. 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. PMID: 21344628
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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