A patient with Aarskog-Scott syndrome may show a number of clinical findings.


Gender: Most affected patients are male (although the syndrome shows genetic heterogenicity, most cases show X-linked recessive inheritance)


Body size:

(1) short stature


Craniofacial findings:

(1) broad forehead with round face

(2) abnormally formed ears

(3) maxillary hypoplasia

(4) long philtrum

(5) short, upturned (anteverted) nose


Eyes changes:

(1) downward slanting palpebral fissures

(2) hypertelorism

(3) ptosis

(4) strabismus


Oral changes:

(1) hypodontia

(2) dental malocclusion

(3) cleft lip and palate

(4) enamel hypoplasia

(5) col deformity to anterior mandible

(6) congenital missing teeth or delay in eruption


Bone changes:

(1) distally shortened limbs

(2) pectus excavatum

(3) spina bifida occulta

(4) cervical vertebral defects

(5) odontoid hypoplasia

(6) additional ribs

(7) retarded bone age

(8) osteochrondritis


Changes in hands and feet:

(1) soft tissue syndactyly of digits

(2) brachydactyly (short digits, associated with hypoplasia of terminal phalanges)

(3) clinodactyly (lateral or medial deviation of fingers)

(4) camptodactyly (permanent and irreducible flexion of fingers)

(5) broad feet

(6) abnormal dermatoglyphics

(7) single palmar crease


Ligamentous changes:

(1) cervical ligamentous laxity

(2) inguinal hernia

(3) joint hypermobility


Cardiac findings:

(1) congenital heart malformations


Urogenital findings in males:

(1) hypospadias

(2) shawl scrotum

(3) bifid scrotum

(4) cryptorchidism



(1) no to moderate mental retardation

(2) attention deficit disorder


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