Trisomy 21
Congenital heart disease
Mitral valve prolapse
Oesophageal/ Duodenal web/atresia
Tracheoesophageal fistula,
Pyloric stenosis
Meckel diverticulum
Imperforate anus
Hirschsprung disease
Chronic constipation
GORD
Coeliac disease
Intellectual disability/learning difficulties
Epilepsy
Cord compression from subluxation/dislocation of atlanto-axial joint
Sensory impairment
Hearing loss
Sensorineural and/or conductive deafness
Otitis media
Glue ear)
Refractive errors
Strabismus
Nystagmus
Cataracts
Keratoconus
URTI
Pneumonia
Sleep apnoea
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
Alopecia
Dry skin
Folliculitis
Atopic dermatitis
Seborrheic dermatitis
Blepharitis
Psoriasis
Alopecia
Hypothyroidism
Failure to thrive
Obesity
Diabetes
Early menopause
Decreased fertility
Hypogonadism
Undescended testes
Decreased fertility
Osteoporosis:
Congenital renal tract anomalies- -hypospadias, cryptorchidism
Leukaemia
Thrombocytopenia
Depression
Anxiety
OCD
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