Presenting feature | Assessment method |
---|---|
General appearance | Â |
Enlarged head | Clinical examination (including measurement of head circumference),* family history* |
Coarse facial features (broad nose with flared nostrils, prominent supraorbital ridges, large jowls, thickened lips) | Clinical examination* |
Irregular, peg-shaped teeth | Clinical examination* |
Hyperplasic and hypertrophic gingival tissue | Clinical examination* |
Cardiovascular system | Â |
Right and left ventricular hypertrophy | Echocardiogram,* chest X-ray,* cardiac MRI,†CT scan†|
Arrhythmia, irregular heartbeat | Clinical examination,* electrocardiogram,* Holter monitoring†|
Heart failure | Echocardiogram,* electrocardiogram,* CT scan,†metabolic or perfusion imaging (positron emission tomography and single photo emission computer tomography)†|
Changes to mitral, aortic, tricuspid and pulmonary valves | Echocardiogram,* cardiac MRI†|
Hypertension | Clinical examination* |
Nervous system | Â |
Developmental delay | Medical history (achievement of developmental milestones),* neurobehavioral assessment/cognitive testing,* measurement of intelligence quotient†|
Progressive mental impairment (cognitive dysfunction) | Neurobehavioral assessment/cognitive testing,* measurement of intelligence quotient†|
Gait disturbance | Evaluation of sitting and standing posture and walking ability (6-minute walk test),* MRI of the brain and cranio-cervical junction†|
Seizures | MRI of the brain and cranio-cervical junction*, electroencephalography†|
Behavioural disturbances (over activity, obstinacy, aggression) | Neurobehavioral assessment/cognitive testing,* measurement of intelligence quotient†|
Carpal tunnel syndrome | Electrophysiological testing of nerve conduction velocity†|
Eye | Â |
Loss of vision/visual field | Best-corrected visual acuity test,* slit lamp biomicroscopy,* visual field (automated static or kinetic)* |
Elevated intraocular pressure | Applanation tonometry* |
Retinal pigmentary degeneration | Fundoscopy,* retinoscopy/refractometry,* visual field,* optical coherence tomography,†electroretinography†|
Optic nerve involvement (optic disc swelling, papilloedema, optic atrophy) | Fundoscopy,* visual field,* optical coherence tomography,†visual-evoked potential†|
Musculoskeletal system | Â |
Short neck and short limbs | Clinical examination (including auxological evaluation)* |
Short stature | Clinical examination (including auxological evaluation)* |
Arthropathy, joint stiffness and contractures | 6-minute walk test,* joint range of motion (shoulders, elbows, wrists, knees, hips and ankles)* |
Abnormal bone thickness and shape (e.g. malformation of tarsal bones, pelvis, and vertebral bodies) | X-ray (spine, hips and pelvis)*, radiography†|
Claw-like hands | Clinical examination* |
Spine deformities (kyphosis, scoliosis) | Evaluation of standing and sitting posture and walking ability (6-minute walk test),* cervical spine flexion/extension,* MRI of the cervical spine,†X-ray of the lumbar spine†|
Ear, nose and throat | Â |
Enlarged, protruding tongue | Clinical examination* |
Recurrent ear infections | Medical history (frequency of ear infections),* otological and audiological examinations* |
Progressive hearing loss (conductive and sensorineural) | Otological and audiological examinations* |
Frequent upper respiratory tract infections | Medical history (frequency of respiratory infections),* vital signs (pulse, respiratory rate, blood pressure, and oxygen saturation in air)* spirometry to measure FVC* |
Thick nasal and tracheal secretions | Examination of upper airway* |
Airway | Â |
Progressive airway obstruction, tracheobronchomalacia | Examination of upper airway for hypertrophy of the tonsils and adenoids, and tracheal deformities* |
Sleep apnoea | Sleep study (assessment of thoracic and abdominal motion; pulse oximetry to measure arterial oxygen saturation and pulse rate; electrocardiography)* |
Skin | Â |
Thickened and inelastic skin | Clinical examination* |
Pebbly, ivory-coloured skin lesions | Clinical examination* |
Abdomen/gastrointestinal system | Â |
Hepatomegaly | Clinical examination,* abdominal ultrasound,* abdominal MRI†|
Splenomegaly | Clinical examination,* abdominal ultrasound,* abdominal MRI†|
Bladder obstruction | Abdominal ultrasound* |
Chronic diarrhoea | Medical history* |
Umbilical and/or inguinal hernias | Clinical examination* |
Psychological wellbeing | Â |
Poor quality of life | Patient interview,* patient-completed quality of life questionnaires (e.g. Child Health Assessment Questionnaire Disability Index Score [CHAQ DIS], Short Form 36 Health Survey [SF-36])†|