Cranium size and appearance:
- Microcephaly
- Macrocephaly
- Brachycephaly
- Plagiocephaly
Craniofacial Profile
- Midface retrusion or hypoplasia.
- Prognathism.
- Asymmetry.
Eyes:
- Hypertelorism
- Hypotelorism
- Extraocular movement abnormalities:
- Esotropia
- Exotropia
- Nystagmus
Ears:
- Shape and rotation.
- Malformed and posteriorly rotated ears, low set.
- Microtia (hemifacial or craniofacial microsomia [Goldenhar syndrome]).
Nose
- Prominent, bulbous tip.
- Split appearance.
- Length (long philtrum in Williams syndrome).
- Smooth (fetal alcohol syndrome).
Mouth and throat:
- Macrostomia.
- Microstomia (trisomy 18).
- High arched palate (Marfan syndrome).
- Cleft uvula.
Dentition:
- Widely spaced teeth.
- Dental decay, enamel hypoplasia.
Tongue:
- Protrusion.
- Thrusting (Down syndrome or other conditions with poor orofacial musculature).
Neck
- Wide (Turner syndrome, Noonan syndrome).
- Short (Down syndrome).
- Webbing (Turner syndrome, Noonan syndrome).
Chest:
- Pectus excavatum (Noonan syndrome).
- Pectus carinatum (Marfan syndrome).
- Wide-spaced nipples (Down syndrome, Turner syndrome, Noonan syndrome).
Cardiovascular:
- Cardiomyopathies.
- Arrhythmias.
- Structural heart defects – Atrial septal defect (Holt-Oram syndrome), atrioventricular canal or ventricular septal defect (trisomy 21), ventricular septal defect (CHARGE association).
- Aortic hypoplasia (Turner syndrome), supravalvular aortic stenosis (Williams syndrome).
- Aortic dilatation (Marfan syndrome).
Abdomen:
- Hepatomegaly with or without splenomegaly.
Extremities
- Limited range of motion.
- Contractures.
Hands and feet:
- Polydactyly (chromosome abnormalities [trisomy 13]).
- Syndactyly.
- Arachnodactyly (Marfan syndrome).
- Broad thumbs and toes.
- Clubfoot.
Skin, hair, and nails:
- Sparse hair.
- Hair color lighter than expected.
