FEATURES OF SYNDROMES ( Alphabetical order) –

ALAGILLE SYNDROME-

• Bile duct paucity with cholestasis
• heart defects (pulmonary artery stenosis)
• Ocular abnormalities (posterior embryo toxin)
• Skeletal defects (butterfly vertebrae)
• Long Nose

ANGELMAN SYNDROME ( Chromosome 15 deletion) –

• Ataxia/ Jerky movements
• Seizures
• Hypotonia
• Midface hypoplasia
• Uncontrollable bouts of laughter
• Largemouth with tongue protrusion
• Severe mental retardation

BECKWITH WIEDEMANN SYNDROME-

• Large size at birth
• Large tongue
• Microcephaly
• Neonatal hypoglycemia
• Large fontanelle
• Mild to moderate mental retardation

CORNELIA DE LANGE

• Short Stature
• Failure to thrive
• Microcephaly
• Long curly eyelashes/ bushy eyebrows
• Micrognathia
• Failure to thrive
• Severe mental retardation
• Hearing impairment

DIGEORGE SYNDROME( VELO CARDIO-FACIAL) SYNDROME

• Hypoplasia or agenesis of the thymus
• Hypoplasia/ Agenesis of parathyroid glands
• Hypoplasia of auricle and external auditory canal
• Cardiac anomalies
• Cleft palate
• Short Stature
• Behavioural problems

DOWN SYNDROME(TRISOMY 21)-

• Short Stature
• Hypotonia
• Microcephaly
• Flat occiput
• Upslanting palpebral fissure
• Epicanthal folds
• Single palmar crease
• Congenital heart disease
• Moderate mental retardation

FRAGILE X SYNDROME-

• Prominent Ears
• Long narrow face
• Hyper-extensible joints
• Macroorchidism at puberty
• Moderate mental retardation/ Autism

KLINEFELTER SYNDROME( 47 XXY)-

• Tall slim stature
• Hypogonadism
• Mild mental retardation
• Behaviour problems

NOONAN SYNDROME-

• Short Stature
• Broad forehead
• Ptosis
• Low set ears
• Shield chest
• Congenital heart disease (pulmonary stenosis)

PRADER-WILLI SYNDROME-

• Short Stature
• Hypogonadism
• Hypotonia
• Failure to thrive as infants then obesity
• Moderate mental retardation
• Behavioural problems

SOTOS SYNDROME-

• Tall stature
• Large hands/ feet
• Macrocephaly
• Hypertelorism
• Down-slanting palpebral fissure
• Mild to moderate mental retardation

TURNER SYNDROME-

• Short Stature
• Webbed neck
• Broad chest with wide-spaced nipples
• Mild mental retardation
• Hearing impairment

WAGR SYNDROME-

• Wilms tumour
• Aniridia
• Male genital hypoplasia
• Long face
• Slanting palpebral fissures
• Ptosis
• Beaked nose
• Mental retardation

WILLIAM SYNDROME( Chromosome 7 deletion)-

• Short Stature
• Epicanthal folds
• Round face with thick prominent lips
• Congenital heart problems(Aortic stenosis)
• Mild mental retardation
• Friendly personality