Age of onset | Infancy  < 12 months | Toddler 12 months–2 y/o | Early childhood 2–5 y/o | Middle childhood 6–11 y/o | Adolescence 12–18 y/o | Adult  > 18 y/o |
---|---|---|---|---|---|---|
Growth | Intra-uterine growth retardation | Failure to thrive | Â | Muscular hypertrophy Short stature | Overweight | Â |
Specific facial feature | Â | Â | Â | Prognathism Maxillar hypoplasia Narrow palpebral fissure Thin upper lip | Â | Â |
Specific skeletal feature | Â | Extremities abnormalities | Â | Cone shaped epiphyses Thickened calvarium Enlarged vertebral pedicles Joints limitations | Â | Â |
Skin | Â | Â | Â | Stiff and thick skin | Â | Â |
Cardiovascular | Congenital heart defect | Â | Pulmonary arterial hypertension | Pericarditis Vascular stenosis | Â | Â |
Neurologic | Â | Neurodevelopmental delay | Intellectual disability | Behavioral disorder | Â | Â |
Respiratory | Â | Â | Â | Laryngotracheal stenosis Pleural effusion | Â | Â |
Gastro-enterology | Esophageal atresia | Digestive stenosis | Â | Â | Â | Â |
Sensory system | Â | Â | Hearing impairment Refractive disorders | Â | Â | Â |
Endocrine | Â | Â | Â | Precocious puberty | Â | Infertility Diabetes mellitus |
Immunity | Â | Â | Hypogammaglobulinemia | Â | Â | Â |