Table 2 Summary of Cohen syndrome’s clinical manifestations [1, 3,4,5, 22, 25,26,27,28,29]

Craniofacial characteristics:

Musculoskeletal system:

• Wave-shaped eyelids

 • Short philtrum

 • Thick hair

 • Low hairline

 • Long or thick eyelashes

 • Prominent root of nose

 • Thick eyebrow

 • Prominent upper central incisors

 • High or narrow plate

 • Microcephaly

 • Small or absent lobuli of ears

• Short stature

• Mild syndactyly

• Kyphoscoliosis

• Cubitus valgum

• Truncal obesity

• Simian creases

• Lumbar lordosis

Ocular system:

 • Downslanting palpebral fissures

Cardiovascular system:

Growth and Developmental abnormalities:

• Cardiac systolic murmur

• Decreased left ventricular function in older patients

• Floppy mitral valve and mitral regurgitation

• Dilation in the descending aorta

 • Motor developmental delay

 • Speech delay

 • Non-progressive mental retardation

 • Delayed puberty

 • Low birth weight

Musculoskeletal system:

 • Hypotonia

 • Hypermobile joints

 • Slender limbs

 • Pes planus

 • Wide gap between the first toe and the second toe

 • Genu valgum

Endocrine system:

 • Gonadotropin deficiency

 • Growth hormone deficiency

 • Insulin resistance

 • Non-insulin-dependent diabetes mellitus

 • Cryptorchidism

Nervous system:

 • Motor clumsiness

 • Brisk reflexes

 • Cheerful disposition

Ocular system:

(Ophthalmic abnormalities are mostly seen in patients older than 5 years old and are progressive):

 • Retinochoroidal dystrophy

 • Myopia (mostly refractive type)

Gastrointestinal system:

 • Neonatal feeding difficulties

Other:

 • High-pitched voice

 • Reduced fetal activity