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Flashcards in Down Syndrome Deck (12)
1

Common physical features present at birth (12)

- Growth parameters are usually normal
– midfacial hypoplasia
– upslanting palpebral fissures
- epicanthal folds
– small ears
– large-appearing tongue
– low muscle tone
- increased joint mobility
– short fingers
- transverse palmar crease
- Clinodactly (5th finger incurving)
- increased space between toes 1 and 2

2

Cardiac issues (% affected, recommendations, 1 specific condition often seen)

– Seen in approximately 50% of patients with DS
– All types of anomalies may be present, but Atrioventricular Canal is common to DS
– Echocardiogram in the newborn period is recommended

3

Gastrointestinal (anatomic) (2-3)

Esophageal atresia, Duodenal atresia,
Hirschsprung’s (improper muscle movement in bowel)

4

Gastrointestinal (digestive) (3)

1. constipation - very common
2. GERD (Gastroesophageal Reflux Disease) - very common
3. Celiac Dz (recommended screen is TTG + IgA)

5

Opthalmic problems (5)

-blocked tear ducts,
-myopia
-amblyopia (lazy eye)
-Nystagmus
-Cataracts (may present in the newborn period or develop during infancy; checking for a light reflex is important at every visit)

6

Ear, Nose and Throat Problems (4)

- chronic ear infections, deafness – both sensorineural (CN VIII) and conductive (when hearing loss is due to problems with the ear canal, ear drum, or middle ear and its little bones),
- chronic nasal congestion,
- enlarged tonsils and adenoids,
- obstructive apnea

7

Endocrine Problems (autoimmune disorders) (3)

– Thyroid dz (RR 13-50%) – most commonly hypothyroidism which may be congenital or acquired
– Insulin Dependent Diabetes
– Alopecia Areata

8

Orthopedic Problems (3)

– hips
– joint subluxation
– atlantoaxial subluxation

9

Hematologic Issues (3)

– Myeloproliferative disorder in the newborn. Seen almost exclusively in babies with down syndrome (10-20%)
– increased risk of leukemia (12-20x)
– Iron deficiency anemia

10

Developmental Issues (3)

– hypotonia affects gross motor development
– Spectrum of intellectual disability – average is mild-moderate disabilities
– speech problems (importance of sign language)

11

Psychiatric Issues (3)

– depression
– early Alzheimer’s
– Autism (RR 10%)

12

Reproductive considerations. Fertility is (normal/reduced)? Puberty is (normal/delayed)?

reduced fertility, normal puberty