SCS presents in a variable fashion. The majority of individuals with SCS are moderately affected, with uneven facial features and a relatively flat face due to underdeveloped eye sockets, cheekbones, and lower jaw. In addition to the physical abnormalities, people with SCS also experience growth delays, which results in a relatively short stature. Although, most individuals with SCS are of normal intelligence, some individuals may have mild to moderate mental delays. More severe cases of SCS, with more serious facial deformities, occurs when multiple cranial sutures close prematurely. Cranial defects The hand of a 4-year-old boy with syndactyly * Flat, asymmetric head and face * Head is typically cone-shaped (acrocephaly) or flat (brachycephaly) but can also be long and narrow (dolichocephaly) * Head is short from front to back * Lopsided face * Low-set hairline causing forehead to appear tall and wide Defects of the hands and feet * Webbing (syndactyly) between the second and third finger and between the second and third toes * Short fingers and toes (brachydactyly) * Broad thumb and/or a broad hallux (big toe) with a valgus deformity (outward angulation of the distal segment of a bone/joint) * Hands have a single palmer flexion crease Ocular defects Girl with epicanthal folds A diagram showing a complete cleft lip and palate * Unevenly positioned eyes that may be crossed (strabismus) or wide-set (hypertelorism) * Vision problems due to abnormal facial anatomy, which causes mechanical disturbances of the extraocular muscles, resulting in strabismus (crossed eyes) * Tear duct stenosis (narrowing of the tear duct) * Drooping eyelids (ptosis) * Downward slanting palpebral fissures (separation between upper and lower eyelids) * Nearsightedness (myopia) * Epicanthal folds (skin folds of the upper eyelid covering the inner corner of the eye) * Blepharophimosis (bilateral ptosis with reduced size of eyelid) * Optic atrophy * Refractory errors Ear, nose, and mouth defects * Small, low-set ears that may be rotated somewhat backwards and has a prominent (bulging) pinna * Beaked nose (slightly bent downward at tip) that is slightly off center and contains a deviated septum * Malocclusion associated with dental abnormalities including enamel hypoplasia (thin enamel due to incomplete formation), hyperdontia (extra teeth), and peg teeth (small, abnormally shaped teeth) * Cleft palate with high arch Less common defects * Short stature * Vertebral fusions * Congenital heart problems * Speech problems * Anal atresia (malformed rectum) * Undescended testes (cryptorchidism) * Renal (kidney) abnormalities * Personality disorders
Saethre–Chotzen syndrome
Pelger–Huët anomaly
Goldberg–Shprintzen syndrome
Marshall–Smith syndrome
Langer–Giedion syndrome
Bardet–Biedl syndrome
Smith–Magenis syndrome
Schinzel–Giedion syndrome