What is Cohen Syndrome?
Cohen syndrome is an inherited genetic condition and rare disease.
There are less than 500 recorded cases of the syndrome to date, but as symptoms vary considerably between individuals, there may be many more unreported and undiagnosed cases.
This underdiagnosis is due to the fact that the combination of some of the main symptoms- a very small head, truncal obesity, and intellectual impairment- are also common to many other syndromes.
Syndrome Synonyms:
CHS1, Formerly COH Hypotonia, Obesity, And Prominent Incisors Pepper Syndrome
What gene change causes Cohen Syndrome?
Mutations in the VPS13B gene, also sometimes known as the COH1 gene, are responsible for the disorder. The disease is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Cohen Syndrome?
The main symptoms of the syndrome include developmental delay and intellectual disability.
Physical and facial characteristics of the disorder include a small head, nearsightedness (myopia) that progressively gets worse, and a breakdown in the light-sensitive tissue found at the back of the eyes.
Hypermobility is another major symptom.
Unique facial features include thick hair and eyebrows, long eyelashes, down-slanting eyes, a large nasal tip, a smooth philtrum and large central, upper teeth.
Other health conditions associated with the syndrome include obesity beginning in adolescence, and low white blood cells.
Possible clinical traits/features:
Cognitive impairment, Growth hormone deficiency, Kyphosis, Visual impairment, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Short stature, Prominent nasal bridge, High, narrow palate, Genu valgum, Gingival overgrowth, Childhood-onset truncal obesity, Short metatarsal, Reduced number of teeth, Short metacarpal, Sandal gap, Prenatal movement abnormality, Ventricular septal defect, Thoracic scoliosis, Microcephaly, Short philtrum, Strabismus, Thick eyebrow, Cryptorchidism, Cubitus valgus, Small for gestational age, Downslanted palpebral fissures, Motor delay, Delayed puberty, Coarse hair, Clinodactyly of the 5th finger, Chorioretinal dystrophy, Feeding difficulties in infancy, Facial hypotonia, Finger syndactyly, Thick corpus callosum, Macrodontia, Macrodontia of permanent maxillary central incisor, Tapered finger, Long toe, Low anterior hairline, Lumbar hyperlordosis, Muscular hypotonia, Mitral valve prolapse, Neurological speech impairment, Myopia, Neutropenia, Narrow palm, Neonatal hypotonia.
How is it diagnosed?
To find out if someone has a diagnosis of Cohen syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
