Down Syndrome

Zahra Ali

Causes of Trisomy 21:

1. Non-disjunction:
Error in meiosis

Causes of Trisomy 21:

2. Mosaicism: Non-disjunction:
during mitosis

Causes of Trisomy 21:

3. Robertsonian translocation:

Clinical Features

Head & Neck:

Neck fold

Brachycephaly

Limbs:

Sandal
Short 5th digit & Clinodactyly
Joint Hyperflexibility

Heart:
Atrial Septal Defect

Patent ductus arteriosis

Ventricular Septal Defect

Blood:
Risk of ALL(acute lymphocytic leukemia)
Risk of AML(acute myelogenous leukemia)
Transient Leukemia

GI:

Annular Pancreas

Duodenal Atresia

Imperforate Anus

Endocrine:

Thyroid disease:
Hypothyroid >hyperthyroid
Diabetes-Risk 3 times more
Infertility-Male 100% infertile
Female do become pregnant
Obesity
Short stature (DS growth chart)

Skin:

Cutis Marmorata

Fissured Tongue

Neurology:

Hypotonia

Developmental Delay

ASD(Autism spectrum disorder)

Depression
Alzheimer disease

Diagnosis

Prenatal Diagnosis
Screening Test(15-20th Wk gestation)
Triple test =beta hCG+
alpha fetoprotein,estriol + (UltraSound)
Diagnostic Test
Amniocentesis(12-20th WK)
Chorionic Villus Sampling(>20wk)
Nuchal Translucency

Post-natal Diagnosis:
Phenotype at birth: (if missed ante-natal)
Face,hypotonia,deudenal atresia ect ect
Confirm by:
Karyotype
FISH

Medical Management

 Growth- Plot on DS chart , Prevent Obesity

Heart : Echo and cardiology review

Hearing ; screening in newborn ,every 6m till 3 yr
Eye disease: red reflex for cataract,every 6 mo for strabismus
Thyroid: TFT at birth ,Repeat every 6m and annualy
Caeliac disease: screening at 2 yr

Blood: CBC at birth watch for polycythemia & Leukemia

Atalanto axial instability: Xray Neck at 3 year
Avoid Contact sport