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).
Symptoms vary considerably from person to person but may include distinctive facial features, retinal dystrophy, nearsightedness, small head size, intellectual disability, global developmental delay, weak muscle tone, and unusually large range of joint movement.
The exact effect of Cohen syndrome on one's lifespan is unclear. Some people with the disease are known to be alive in their fifties.
Etymology. The syndrome is named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
The typical facial gestalt of CS comprises thick hair and a low hairline, downward-slanting and wave-shaped palpebral fissures, thick eyebrows and eyelashes, a prominent, beak-shaped nose with a high nasal bridge, malar hypoplasia and a high-arched palate.
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare disease that affects facial bone development, causing major facial deformities.
Ayme-Gripp syndrome
The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly rotated ears. Hearing loss is often congenital.
Cohen syndrome is a variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability.
Differential diagnoses include Bardet-Biedl syndrome, Prader-Willi syndrome, Cri-du-chat syndrome, Alström syndrome, Angelman syndrome, Williams syndrome, MORM syndrome and monosomy 1p36 (see these terms). Mirhosseini-Holmes-Walton syndrome is considered allelic to CS and is clinically indistinguishable.
Cockayne syndrome, first described in 1936 by Dr. Cockayne, is a rare genetic disorder, mainly characterized by growth disorders, intellectual deficit, neuromotor difficulties, and impaired vision and hearing. The children look cachectic with a prematurely aged face. There are different types of the syndrome.
Stickler syndrome is a progressive disorder, so the symptoms are likely to become more severe as your child ages. There's no cure, but it's a manageable condition, and most children go on to lead full, healthy lives.
Prognosis. Prognosis is variable, depending on the severity of congenital heart disease. Historically, life expectancy past early childhood was very low, however with the increased quality and early treatment intervention the majority may live into adulthood. Exact life expectancy is unknown.
People who are accurately diagnosed, adopt proper lifestyles and receive appropriate medical and surgical management may live a normal life span (into their 70s). However, there are no guarantees. Having Marfan syndrome does not mean patients might not acquire other conditions that are common in the aging population.
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.
Offspring of an individual with Cohen syndrome are obligate heterozygotes (carriers). Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants have been identified in an affected family member.
Health among the Amish is characterized by higher incidences of particular genetic disorders, especially among the Old Order Amish. These disorders include dwarfism, Angelman syndrome, and various metabolic disorders, such as Tay-Sachs disease, as well as an unusual distribution of blood types.
Hypotonia means decreased muscle tone. It can be a condition on its own, called benign congenital hypotonia, or it can be indicative of another problem where there is progressive loss of muscle tone, such as muscular dystrophy or cerebral palsy. It is usually detected during infancy.
Congenital myopathy (CM) is an extremely rare, inherited disease that affects the muscles (myopathy) and is characterized by the lack of muscle tone or floppiness at birth. There are several different subtypes of congenital myopathy and many are caused by changes (mutations) in specific genes.
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Megalocornea-intellectual disability syndrome is an extremely rare disorder that is characterized by distinctive abnormalities of the cornea of the eye (megalocornea) and varying degrees of cognitive impairment (intellectual disability).
Prader-Willi syndrome (PWS) is a complex, multisystem disorder characterized by neonatal hypotonia with poor suck and poor weight gain without nutritional support, developmental delay, mild cognitive impairment, hypogonadism leading to genital hypoplasia and pubertal insufficiency, short stature if untreated with ...
Some of the most common known causes of intellectual disability – like Down syndrome, fetal alcohol syndrome, fragile X syndrome, genetic conditions, birth defects, and infections – happen before birth.
What is Binder syndrome? Binder syndrome — also known as maxillonasal dysplasia or nasomaxillary hypoplasia — is a rare congenital condition, which means that a baby is born with it. This condition causes an underdeveloped midface and nose, which can appear as a flattened nose and shorter upper jaw.
Pallister W syndrome is apparent at birth. It is characterized by widely spaced eyes (hypertelorism) with downward slanting eyelid folds (palpebral fissures), a broad flat nasal bridge, a broad tip of the nose, a broad flat jaw, central clefting of the palate or upper lip, seizures, and mental retardation.
Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin.