Downs syndrome

Trisomy 21

Clinical features

• Flattened face
• Small head
• Short neck
• Protruding tongue
• Upward slanting eyelids (palpebral fissures)
• Unusually shaped or small ears
• Poor muscle tone
• Broad, short hands with a single crease in the palm
• Relatively short fingers and small hands and feet
• Excessive flexibility
• Tiny white spots on the coloured part (iris) of the eye called Brushfield’s spots
• Short height

Complications

Cardiovascular

Congenital heart disease

Mitral valve prolapse

Gastrointestinal tract

Oesophageal/ Duodenal web/atresia

Tracheoesophageal fistula,

Pyloric stenosis

Meckel diverticulum

Imperforate anus

Hirschsprung disease

Chronic constipation

GORD

Coeliac disease

Neurological

Intellectual disability/learning difficulties

Epilepsy

Cord compression from subluxation/dislocation of atlanto-axial joint

Sensory impairment

ENT

Hearing loss

Sensorineural and/or conductive deafness

Otitis media

Glue ear)

Eyes

Refractive errors

Strabismus

Nystagmus

Cataracts

Keratoconus

Respiratory

URTI

Pneumonia

Sleep apnoea

Musculoskeletal

Small stature,

Single palmar crease

Brachycephaly

Microcephaly

Hypotonia

Feeding difficulties

Obstructive sleep apnoea

Hyper flexibility

Joint subluxation/ dislocation

Hypoplasia of midface: contributes to otitis media, mouth breathing

Atlanto-axial instability

Autoimmune disease

Alopecia

Dermatological

Dry skin

Folliculitis

Atopic dermatitis

Seborrheic dermatitis

Blepharitis

Psoriasis

Alopecia

Endocrine

Hypothyroidism

Failure to thrive

Obesity

Diabetes

Early menopause

Decreased fertility

Hypogonadism

Undescended testes

Decreased fertility

Osteoporosis:

Genitourinary

Congenital renal tract anomalies- -hypospadias, cryptorchidism

Haematological

Leukaemia

Thrombocytopenia

Psychiatric

Depression

Anxiety

OCD

Management

Referral to a multidisciplinary team

Audiology annually from 1–5 years; 2 yearly from age 5–18 and further as needed

Referral to dietician

Osteoporosis prevention

Ophthalmological examination at 0–6 months; annually to age 5 years; 2 yearly to age 18 years and if needed or

concerned regarding vision

Referral to breastfeeding/ lactation consultant

Thyroid function check at birth; then annually throughout childhood and if signs and symptoms

Follow up regarding undescended testes

Dental check-up 3–6 monthly

Monitor for signs of coeliac disease

Monitor weight

Watch out for signs of cord compression secondary to atlantoaxial subluxation

Advice regarding contraception

Advice regarding sexuality

Referral to counselling services/psychologist

Family support/counselling

Centrelink certificate

Consideration of special  schools

Future considerations regarding suitable employments

Annual general health check