Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

A detailed physical examination has three parts: ^[1]

1. Anthropometry – provides an estimate of the nutrition, any underlying medical or genetic condition. Assessment includes: height, arm span, sitting height, weight, head circumference, chest circumference, abdominal circumference, intercanthal and interpupillary distances, and palm and foot lengths.
2. Dysmorphology examination – this documents birth defects by conducting a head-to-toe examination to look for minor physical anomalies that could shed light on the etiology of ID.
3. Examination of major organ systems– this could provide clues toward a disorder involving inborn error of metabolism. Assessment should include vision, hearing, and gait. Patients are referred to geneticists for further evaluation in case of a minor physical anomaly.
4. Behavioral observation – this is to correlate the clinical history and intellectual and behavioral abilities. It starts with observing general appearance, any oddities in behavior, attention span, receptive and expressive speech, social skills.

• HEENT
  • Scalp hair: sparse, light-colored, double whorl on the scalp, easily breakable
  • Skull shape: brachycephaly, scaphocephaly, trigonocephaly, oxycephaly, plagiocephaly
  • Facial appearance: coarse facies, elongated, triangular, small
  • Eyes: deeply set, prominent, microphthalmia, upslanting/downslanting palpebral fissures, hypertelorism, strabismus, ptosis, bushy eyebrows, synopharys, microcornea, corneal clouding, cataracts, coloboma of the iris, blue sclera, telangiectasia
  • Ears: low set, small, large, malformed, posteriorly rotated, anteverted, periauricular tags, pits, cup shape
  • Nose: depressed nasal bridge, short and stubby, beak-shaped, bulbous tip, flaring, hypoplastic nostrils
  • Palate: high-arched, ridged, cleft, bifid uvula
  • Chin: prominent, retrognathia, micrognathia

• Chest: pectus excavatum, pectus carinatum, nipple anomalies, gynecomastia
• Abdomen: Protuberant, scaphoid, umbilical hernia, hepatosplenomegaly, inguinal hernia
• Genitourinary: micropenis, micro-orchidism or macro-orchidism, undescended testis, ambiguous genitalia, hypospadias, absent secondary sexual characteristics, shawl scrotum
• Neuromuscular: kyphosis, scoliosis, spina bifida
• Extremities
  • Hands: broad, shorthands, simian crease, Sidney line, spade-shaped
  • Fingers: clinodactyly, brachydactyly, syndactyly, camptodactyly, arachnodactyly, polydactyly
  • Feet: Pes planus, pes cavus, valgus/varus, broad hallux, increased distance between 1st and 2nd toes
• Skeletal: exostoses, increase carrying angles, joint hypermobility