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Physical Examination in Down Syndrome (Trisomy 21)
Down syndrome (trisomy 21) is the most common chromosomal disorder and the single most common genetic cause of moderate intellectual disability, with an incidence of approximately 1 in 700 live births. The diagnosis can usually be made clinically at birth or shortly thereafter from a characteristic - though variable - phenotype. Karyotyping remains essential for confirmation and genetic counseling.
- Thompson & Thompson Genetics and Genomics in Medicine, 9th ed.
1. General Appearance
| Feature | Detail |
|---|
| Hypotonia | Often the first abnormality noticed in the newborn; generalized, "floppy baby" |
| Short stature | Present in most individuals |
| Habitus | Broad, stocky build; obesity common in older children and adults |
2. Head and Face
| Region | Findings |
|---|
| Skull | Brachycephaly; flat occiput |
| Face | Flat facial profile; midface hypoplasia |
| Fontanelle | Wide anterior fontanelle; delayed closure |
| Nasal bridge | Flat/depressed |
| Eyes | Upslanting palpebral fissures; epicanthal folds; Brushfield spots (speckled iris); strabismus common |
| Ears | Small, low-set, dysplastic ears; narrow ear canals |
| Mouth/tongue | Protruding tongue (relative macroglossia); fissured tongue in older children; open mouth posture |
| Palate | High-arched; narrow |
| Neck | Short; loose skin on the nape of the neck (in neonates) |
3. Hands and Feet
| Region | Findings |
|---|
| Hands | Short, broad hands; single transverse palmar crease (simian crease); fifth finger clinodactyly (incurving); brachydactyly |
| Feet | "Sandal gap" - widened space between 1st and 2nd toes; plantar crease between 1st and 2nd toe |
| Dermatoglyphics | Increased ulnar loops; distal axial triradius |
4. Cardiovascular Examination
Congenital heart disease is present in ~50% of all liveborn infants with Down syndrome. It is the most important associated anomaly and the most common cause of early death.
| Defect | Notes |
|---|
| Atrioventricular septal defect (AVSD) | Most characteristic; also called endocardial cushion defect |
| Ventricular septal defect (VSD) | Common |
| Atrial septal defect (ASD) | Common |
| Patent ductus arteriosus (PDA) | Present in a subset |
| Tetralogy of Fallot | Less common |
Examine for: murmurs, signs of heart failure (tachycardia, hepatomegaly, poor feeding), cyanosis, and abnormal precordial impulse. An echocardiogram is mandatory in every newborn with Down syndrome.
5. Abdominal Examination
| Finding | Notes |
|---|
| Duodenal atresia | "Double bubble" sign on imaging; presents with bilious vomiting in neonates - strongly associated with Down syndrome |
| Hirschsprung disease | Absent ganglion cells; constipation, abdominal distension |
| Tracheoesophageal fistula | Check for polyhydramnios history, inability to pass NG tube |
| Umbilical hernia | Common due to hypotonia |
6. Neurological / Musculoskeletal
| Feature | Notes |
|---|
| Hypotonia | Generalized, central; hyperextensible joints |
| Atlantoaxial instability | Due to ligamentous laxity at C1-C2; check for neck pain, limb weakness - important before any surgical procedure or contact sport |
| Reflexes | Reduced deep tendon reflexes in infancy due to hypotonia |
| Intellectual disability | Moderate (IQ typically 35-70); developmental delay evident by end of 1st year |
| Short stature / growth delay | Progressive throughout childhood |
7. Eyes (Ophthalmological)
| Finding | Notes |
|---|
| Brushfield spots | White/yellow spots on the iris periphery |
| Refractive errors | Myopia, hyperopia, astigmatism - very common |
| Strabismus | ~30-45% |
| Nystagmus | Present in some |
| Cataracts | Congenital or early-onset |
8. Ears, Nose, Throat (ENT)
Per Scott-Brown's Otorhinolaryngology:
- Otitis media with effusion (OME) - extremely common; conductive hearing loss
- Narrow, waxy ear canals
- Sensorineural hearing loss with inner ear dysplasia
- Increased incidence of cholesteatoma
- Obstructive sleep apnoea (OSA) - due to relative adenotonsillar hypertrophy, midface/pharyngeal hypoplasia, and hypotonia
- Subglottic stenosis; need for smaller-diameter ET tube than age would predict
- Annual OSA screening recommended until age 3-5 years
9. Skin
| Finding | Notes |
|---|
| Loose skin on nape (neonates) | Often one of the first clinical clues |
| Cutis marmorata | Mottled skin, especially in cold |
| Dry, rough skin | Increases with age |
| Increased risk of alopecia areata | Autoimmune |
10. Haematological / Oncological (Examination Implications)
- 15-fold increase in risk of leukaemia (especially ALL and AML/transient myeloproliferative disorder in neonates)
- Examine for pallor, petechiae, hepatosplenomegaly, lymphadenopathy
11. Alzheimer Disease / Dementia (Adults)
Nearly all individuals with Down syndrome develop Alzheimer-type neuropathology (cortical atrophy, neurofibrillary tangles) several decades earlier than the general population. On examination in adults: progressive cognitive decline, behavioral change, seizures.
Summary Mnemonic: "DOWN"
| Letter | Features |
|---|
| D | Duodenal atresia; Dermatoglyphics (simian crease); Dementia (Alzheimer) |
| O | Occiput flat; Oblique palpebral fissures (upslanting); Otitis media |
| W | Wide fontanelle; Wide sandal gap |
| N | Neck short with loose skin; Nape laxity; Nystagmus |
Key references:
- Thompson & Thompson Genetics and Genomics in Medicine, 9th ed., pp. 102-103
- Scott-Brown's Otorhinolaryngology Head & Neck Surgery, Vol. 2
- Fuster & Hurst's The Heart, 15th ed., Table 2-4 (Genetic Syndromes and Cardiovascular Features)
- Cummings Otolaryngology Head and Neck Surgery