Question: What is (are) Cohen syndrome ?
Answer: Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.
Source: GARD

Question: What are the symptoms of Cohen syndrome ?
Answer: What are the signs and symptoms of Cohen syndrome? The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashes, wave-shaped palpebral fissures, broad nasal tip, smooth or shortened philtrum, and hypotonic appearance. Other findings that tend to be more common among almost all people with Cohen syndrome are listed below. Retinal dystrophy (a condition in which the muscles of the retina do not work properly) Progressive high myopia (nearsightedness) Acquired microcephaly (smaller than normal-sized head) Non-progressive mental retardation, global developmental delay Hypotonia Joint hyperextensibility (unusually large range of joint movement) The Human Phenotype Ontology provides the following list of signs and symptoms for Cohen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neutrophils 90% Abnormality of the eyelashes 90% Abnormality of the palate 90% Aplasia/Hypoplasia of the tongue 90% Arachnodactyly 90% Chorioretinal abnormality 90% Cognitive impairment 90% Gingival overgrowth 90% Hypoplasia of the zygomatic bone 90% Long toe 90% Low anterior hairline 90% Microcephaly 90% Muscular hypotonia 90% Myopia 90% Neurological speech impairment 90% Open mouth 90% Prominent nasal bridge 90% Reduced number of teeth 90% Sandal gap 90% Short philtrum 90% Tapered finger 90% Thick eyebrow 90% Abnormality of the voice 50% Clinodactyly of the 5th finger 50% Coarse hair 50% Cubitus valgus 50% Finger syndactyly 50% Genu valgum 50% Intrauterine growth retardation 50% Joint hypermobility 50% Macrodontia 50% Obesity 50% Prenatal movement abnormality 50% Short stature 50% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Cryptorchidism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Nystagmus 7.5% Optic atrophy 7.5% Pectus excavatum 7.5% Preauricular skin tag 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Childhood-onset truncal obesity - Chorioretinal dystrophy - Convex nasal ridge - Delayed puberty - Facial hypotonia - Feeding difficulties in infancy - Growth hormone deficiency - High, narrow palate - Hypoplasia of the maxilla - Intellectual disability - Laryngomalacia - Leukopenia - Lumbar hyperlordosis - Macrodontia of permanent maxillary central incisor - Mitral valve prolapse - Motor delay - Neonatal hypotonia - Neutropenia - Pes planus - Reduced visual acuity - Short metacarpal - Short metatarsal - Single transverse palmar crease - Small for gestational age - Thick corpus callosum - Thoracic scoliosis - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: How to diagnose Cohen syndrome ?
Answer: How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However, the rate at which mutations are detected via genetic testing varies by ethnicity. For example, the mutation detection rate in COH1 is higher among the Finnish and Old Amish compared to individuals of from other populations.
Source: GARD

Question: What are the treatments for Cohen syndrome ?
Answer: How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections) is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness.
Source: GARD