Clinical Features of the Aarskog-Scott Syndrome

 

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

 

Neurologic:

(1) no to moderate mental retardation

(2) attention deficit disorder