Signs and symptoms

Clinical features and signs

In utero:
    * Reduced fetal movement
    * Frequent abnormal fetal position
    * Occasional polyhydramnios (excessive amniotic fluid)

At birth:
    * Often breech or caesarean births
    * Lethargy
    * Hypotonia
    * Feeding difficulties (due to poor muscle tone affecting sucking reflex)
    * Difficulties establishing respiration
    * Hypogonadism

Infancy:
    * Failure to thrive (continued feeding difficulties)
    * Delayed milestones/intellectual delay
    * Excessive sleeping
    * Strabismus
    * Scoliosis (often not detected at birth)

Childhood:
    * Speech delay
    * Poor physical coordination
    * Hyperphagia (over-eating) from age 2 – 8 years. Note change from feeding difficulties in infancy
    * Excessive weight gain
    * Sleep disorders
    * Scoliosis

Adolescence:
    * Delayed puberty
    * Short stature
    * Obesity
    * Extreme flexibility

Adulthood:
    * Infertility (males and females)
    * Hypogonadism
    * Sparse pubic hair
    * Obesity
    * Hypotonia
    * Learning disabilities/borderline intellectual functioning (but some cases of average intelligence)
    * Prone to diabetes mellitus
    * Extreme flexibility

General physical appearance (adults)
    * Prominent nasal bridge
    * Small hands and feet with tapering of fingers
    * Soft skin, which is easily bruised
    * Excess fat, especially in the central portion of the body
    * High, narrow forehead
    * Almond-shaped eyes with thin, down-turned lids
    * Light skin and hair relative to other family members
    * Lack of complete sexual development
    * Frequent skin picking
    * Striae
    * Delayed motor development