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