Elongated face
Large, prominent ears
Strabismus
High arched palate
Malocclusion of teeth
Hand calluses (due to self-injury)
Dermatoglyphics:
radial
loops, whorls and arches
A-B ridge count and ulnar loopsPertus excavatum
Mitral valve prolapse, cardiomegaly, hypoplasia and dilation of aorta, post-ductal coarctation
Macro-orchidism
Soft, fleshy skin
Scoliosis, pes planus, joint laxity and hyperextensible joints
Brain weightSize of fourth ventricleHippocampal volumeVolume of superior temporal gyrusPosterior cerebellar vermisEpileptic seizures (25%)
(usually generalised tonic-clonic which respond to carbamazepine - half disappear by age 20)
Attention deficit hyperactivity disorder
Short attention span
Impulsivity
Enuresis, encopresis
Autistic-like features:
- Gaze aversion (especially to strangers)
- Social anxiety & shyness
- Hand-flapping and hand biting
- Sensory defensiveness (aversion to loud noise, touch, strong smells or eye contact)
- Poor adaptation to changes in routine
Psychiatric disorders
Increased incidence of familial bipolar affective disorders
- Perseverative mumbling and stereotypic behaviours mask psychosis
- Psychosis in association with epileptic seizures
- Mood instability with aggression and depression (particularly in adolescence)
- Premutation females show increased incidence of schizotypal features and depression
Intellectual disabilities:
80%
males- 50% females
- Mild to moderate (children)
- Moderate to severe (adults)
- Gradual decline in IQ as they grow older but adaptive functioning can be improved
- Specific cognitive profiles; difficulties in sequential processing, short-term memory deficits and weakness in arithmetic.
Fine and gross motor delay
Problems with co-ordination
Speech abnormalities:
- Delayed and distorted speech and language (2 years for words, 3 years for short sentences)
- Tachyphemia
- Tachylalia
- Perseveration and delayed echolalia
- Cluttering of speech