 Low muscle tone (babies appear "floppy")

 Flat facial features, with a small nose

 Upward slant to the eyes
 Small skin folds on the inner corner of the eyes
 Small, abnormally shaped ears
 Single deep crease across the center of the palm
 Hyperflexibility (excessive ability to extend joints)
 Fifth finger has only one flexion furrow instead of two
 Extra space between the big toe and the second toe
 Enlarged tongue that tends to stick out

KLINEFELTER (birth)

 small penis
 undescended testicles
 hypospadias (the urethra is located on the underside of the penis instead of the tip).

Signs that may be apparent in childhood include:

 delays in starting to talk or walk

 learning difficulties, including trouble listening or concentrating in class
 poor motor development or coordination (sometimes leading to shyness or an avoidance
of rough sports)
 tiredness and fatigue
 reduced muscle strength or tone (sometimes leading to other complications such as sleep
apnoea or chronic constipation).

Klinefelter syndrome is often diagnosed at puberty, when the expected physical changes don’t
occur. Some of the signs and symptoms of the condition include:

 small testicles (hypogonadism) – males with Klinefelter syndrome always have small
testicles from puberty
 lack of facial, pubic and underarm hair
 poor muscle development
 breast tissue development (gynaecomastia)
 unexplained weight gain, especially on the stomach or trunk
 tiredness and fatigue
 small penis
 disproportionately long arms and legs compared to the length of the body
 taller than average height
 poor concentration
 single crease in the palm (simian crease)
 difficulties with sexual functioning
 speech and learning difficulties – in some cases this can lead to behavioural problems
 sadness, lowered mood or depression.
 PRADER WILLI SYND

 obsessive and compulsive behaviours, such as picking at the skin

 eye problems, such as nearsightedness
 short stature, often due to growth hormone deficiency
 delayed onset of puberty
 scoliosis (sideways curves in the spine)
 kyphosis (exaggerated hump in the spine)
 delayed or absent menstrual periods in girls
 abnormally small penis in boys
 diabetes, triggered by obesity
 osteoporosis (weakened bones that are prone to fracturing)
 teeth problems, including soft enamel and tooth grinding
 sleep apnoea (periods of breathing cessation during sleep)
 problems with short term memory
 temper tantrums.

FRAGILE

 Behavioural and Emotional features

 Anxiety and shyness
 Attention Deficit Hyperactivity Disorder (ADHD)
 Autistic type behaviours
 Difficulty with eye contact
 Tactile defensiveness
 Repetitive speech
 Aggression

 Developmental features
 Intellectual disability
 Learning difficulties
 Developmental delay
 Speech and communication difficulties
 Difficulty with coordination
 Difficulty with fine and gross motor skills

 Physical features
 Physical features may be subtle or not present they can include
 Low muscle tone and loose joints
 Long narrow face, prominent ears (in older males)
 High palate
 Large testicles (in post pubescent males)
  Mitral valve prolapse – heart murmur

NEONATAL

Neonatal seizures are usually focal and may be difficult to recognize. Common manifestations
include migratory clonic jerks of extremities, alternating hemiseizures, and primitive subcortical
seizures (which cause respiratory arrest, chewing movements, persistent eye deviations or
nystagmoid movements, and episodic changes in muscle tone). Generalized tonic-clonic seizures
are uncommon.

Clinically silent electrical seizure activity is often present after a hypoxic-ischemic insult
(including perinatal asphyxia or stroke) and in neonates with CNS infections, especially after
initial anticonvulsant treatment, which is more likely to stop clinical manifestations than
electrical seizure activity.

INTRAUTERINE