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Cohen syndrome(COH1)

MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality; Disease or Syndrome
Synonyms: COH1; Pepper syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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).
SNOMED CT: Cohen syndrome (56604005)
 
Gene (location): VPS13B (8q22.2)
OMIM®: 216550
Orphanet: ORPHA193

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:
Marni J Falk  |  Heng Wang  |  Elias I Traboulsi   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.  http://ghr.nlm.nih.gov/condition/cohen-syndrome

Clinical features

Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Orthostatic intolerance
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are floppy and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can cause. -Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast). -Shortness of breath. -Cough. -Fatigue, dizziness, or anxiety. -Migraine headaches. -Chest discomfort. Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications. If you need treatment for MVP, medicines can help relieve symptoms or prevent complications. Very few people will need surgery to repair or replace the mitral valve. MVP puts you at risk for infective endocarditis, a kind of heart infection. To prevent it, doctors used to prescribe antibiotics before dental work or certain surgeries. Now, only people at high risk of endocarditis need the antibiotics. NIH: National Heart, Lung, and Blood Institute.
Abnormality of the mitral valve
MedGen UID:
871272
Concept ID:
C4025759
Anatomical Abnormality
An abnormality of the mitral valve.
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.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. 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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Chorioretinal dystrophy
MedGen UID:
346626
Concept ID:
C1857627
Disease or Syndrome
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Decreased central vision
MedGen UID:
461148
Concept ID:
C3149798
Finding
Aplasia/Hypoplasia affecting the eye
MedGen UID:
870303
Concept ID:
C4024745
Finding
Chorioretinal abnormality
MedGen UID:
871350
Concept ID:
C4025844
Anatomical Abnormality
An abnormality of the choroid and retina.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Abnormality of granulocytes
MedGen UID:
488900
Concept ID:
C0427515
Finding
An abnormality of granulocytes.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Cryptorchidism, unilateral or bilateral
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).
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Flatfoot
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot 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.
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
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.
Knee joint valgus deformity
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
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.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
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.
Long toe
MedGen UID:
461963
Concept ID:
C3150613
Finding
Digits that appear disproportionately long compared to the foot.
Low birth weight infant
MedGen UID:
7064
Concept ID:
C0021288
Patient or Disabled Group
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Small-for-dates baby
MedGen UID:
7066
Concept ID:
C0021296
Disease or Syndrome
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Childhood-onset truncal obesity
MedGen UID:
348475
Concept ID:
C1859846
Finding
Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Aplasia/Hypoplasia of the earlobes
MedGen UID:
342091
Concept ID:
C1851792
Congenital Abnormality
Absence or underdevelopment of the ear lobes.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Congenital cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Underdevelopment of the cerebellum.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.
Laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Congenital Abnormality
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
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.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
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.
Abnormality of granulocytes
MedGen UID:
488900
Concept ID:
C0427515
Finding
An abnormality of granulocytes.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Anatomical Abnormality
Any abnormality of the voice.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Kyphosis deformity of spine
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Knee joint valgus deformity
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
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.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Finding
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Long toe
MedGen UID:
461963
Concept ID:
C3150613
Finding
Digits that appear disproportionately long compared to the foot.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the hip bone
MedGen UID:
867370
Concept ID:
C4021735
Anatomical Abnormality
An abnormality of the hip bone.
Hyperplasia of gingiva
MedGen UID:
4894
Concept ID:
C0017566
Pathologic Function
Hyperplasia 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.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Spatial Concept
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
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.
Macrodontia
MedGen UID:
82729
Concept ID:
C0266036
Congenital Abnormality
Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
Downward slant of palpebral fissure
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Prominent, protruding upper incisors
MedGen UID:
371973
Concept ID:
C1835095
Finding
Increased size of the maxillary central secondary incisor tooth.
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
The presence of a high and narrow palate.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
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).
Bushy eyebrows
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the palate
MedGen UID:
867440
Concept ID:
C4021815
Anatomical Abnormality
Any abnormality of the palate, i.e., of roof of the mouth.
Aplasia/Hypoplasia of the tongue
MedGen UID:
869489
Concept ID:
C4023916
Finding
Absence or underdevelopment of the tongue.
Reduced number of teeth
MedGen UID:
869773
Concept ID:
C4024202
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Thick hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
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.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Bushy eyebrows
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Prenatal movement abnormality
MedGen UID:
340343
Concept ID:
C1849510
Finding
An abnormality of fetal movement.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cohen syndrome in Orphanet.

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 26104215Free PMC Article
Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H
Clin Experiment Ophthalmol 2015 Mar;43(2):132-8. Epub 2014 Oct 2 doi: 10.1111/ceo.12391. [Epub ahead of print] PMID: 25060287
Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec;10(12):e1004729. Epub 2014 Dec 11 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20461111Free PMC Article

Diagnosis

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec;10(12):e1004729. Epub 2014 Dec 11 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. [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
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

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

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H
Clin Experiment Ophthalmol 2015 Mar;43(2):132-8. Epub 2014 Oct 2 doi: 10.1111/ceo.12391. [Epub ahead of print] PMID: 25060287
Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec;10(12):e1004729. Epub 2014 Dec 11 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. [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

Clinical prediction guides

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD
PLoS Genet 2014 Dec;10(12):e1004729. Epub 2014 Dec 11 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. [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
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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