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Disease Profile
Cohen syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
COH1; Pepper syndrome; Hypotonia, obesity, and prominent incisors
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
Cohen
Symptoms
Other findings that tend to be more common among almost all people with Cohen syndrome are listed below.[3]
- Retinal dystrophy (a type of
eye disorder affecting the retina, causing progressive vision loss) - Progressive high myopia (nearsightedness)
- Acquired
microcephaly (smaller than normal-sized head) - Non-progressive
intellectual disability , global developmental delay - Hypotonia
- Joint hyperextensibility (unusually large range of joint movement)
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
100% of people have these symptoms | |||
Myopia |
Close sighted
Near sighted
Nearsightedness
Near sightedness
[ more ] |
0000545 | |
80%-99% of people have these symptoms | |||
Aplasia/Hypoplasia of the tongue | 0010295 | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 | |
Chorioretinal dystrophy | 0001135 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Gingival overgrowth |
Gum enlargement
|
0000212 | |
Global |
0001263 | ||
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 | |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] |
0010669 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 | |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 | |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Muscular hypotonia |
Low or weak muscle tone
|
0001252 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 | |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 | |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 | |
Short philtrum | 0000322 | ||
Slender toe |
Narrow toe
|
0011308 | |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 | |
30%-79% of people have these symptoms | |||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 | |
Cat cry |
cat-like cry
|
0200046 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Cubitus valgus |
Outward turned elbows
|
0002967 | |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | |
Feeding difficulties in infancy | 0008872 | ||
Finger |
0006101 | ||
Genu valgum |
Knock knees
|
0002857 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Macrodontia |
Increased width of tooth
|
0001572 | |
Narrow palm | 0004283 | ||
Obesity |
Having too much body fat
|
0001513 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Thick hair |
Increased hair density
|
0100874 | |
Weak cry | 0001612 | ||
5%-29% of people have these symptoms | |||
Abnormality of retinal pigmentation | 0007703 | ||
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 | |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] |
0009906 | |
Cryptorchidism |
Undescended testes
Undescended testis
[
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Rare Psychiatry News |