Genatics Flashcards
• Round face / microcephaly
• Wide-set eyes
• Small iaw
• Hypotonia
• High pitched cry
Cri du Chat syndrome: (5q micodeltion)
Narrow face
Small chin
Long nose
Hypogonadisim
Infertility
Gynecomastia
Tall stature
N (puberty&intelligence)
Klinefelter syndrome: (XXY)
Wide mouth
Prominent chin
Widely spaced teeth
Ataxia
Epilepsy
Cognitive impairment
Angelman syndrome: (imprinting maternal)
Small chin
Low-set ears
Wide-set eyes
Cleft palate (posterior)
Cardiac anomalies
Hypoplasia of thymus/ low t cells/ low Ca
Immune dysfunction
Autism
DiGeorge syndrome (velocardiofacial syndrome): (22q11 microdeltion)
Round face
Upward slanting eyes / epicanthic fold
Flat nasal bridge
Small mouth / protruding tongue
Small ear
Short neck
Short & incurved fifth finger / 1 palmar crease
Sandal gap
Brushfeild spot in iris
Flat occiput / 3rd fontanelle
Down syndrome: (Trisomy 21)
Small mouth
Low-set ears
Small jaw
LBW
Prominent occiput
Short sternum
Flexed overlapping fingers
Rocker-bottom feet
Cardiac & renal malformation
Edwards syndrome: (Trisomy 18)
Long face / macrocephaly
Large ears
Prominent forehead / mandible
Marcororchidism
Mital valve prolapse
joint laxity/ scoliosis
autism/ hyperactivity
Fragile X syndrome: (XR)
Wide-set eyes
Low-set ears
Short neck
Pectus excavatum
CHD (PS+ ASD)
short stature
Noonan syndrome:
Cleft lip/palate
Small eyes
Low-set ears
Structural Defect of brain
Scalp defect
Polydactyly
Cardiac and renal malformation
Patau syndrome: (trisomy13)
Narrow forehead
Almond-shaped eyes
Thin upper lip
Hypotonia
Hypogonadism
Neonatal feeding difficulty
Faltring growth in jnfancy
Hyperphagia and obesity
Delay
Learning difficulty
Prader-Willi syndrome: (Imprinting paternal)
Webbed neck
Low-set ears
Widely spaced nipples
Lymphedema (Feet & hands (neonates))
Spoon nails
Short stature
Infertility
Turner syndrome: (XO)
Elongated face
Wide mouth
Full lips
Hypercalcemia
Supravalvular aortic stenosis
Short stature
- Williams syndrome: (7q11 microdeltion + elastin gene)
Short stature below 3rd percentile.
Rhizomelic Shorting (Short proximal long bones)
Trident hands.
Stenosis of foramen magnum.
Macrocephaly.
Midface hypoplasia
Ice cream scoop shape femoral head.
Squared-off iliac wings (Champagne glass sign).
Increase risk of OSA & UAO.
Delay in gross motor development.
Achondroplasia
Broad forehead
Deep-set eyes
Pointed chin
Butterfly vertebrae
Alagille syndrome
Long, narrow face
Prominent ears
Alport syndrome
Flattened face
High forehead
Fused fingers and toes
Apert syndrome
Macroglossia (enlarged tongue)
Omphalocele (abdominal wall defect)
LGA
Beckwith-Wiedemann syndrome:
Protruding eyes
Beaked nose
Underdeveloped upper jaw
Crouzon syndrome
Small chin
Low-set ears
Wide-set eyes
Cleft palate (posterior)
Cardiac anomalies
Hypoplasia of thymus/ low t cells/ low Ca
Immune dysfunction
Autism
DiGeorge syndrome (velocardiofacial syndrome): (22q11 microdeltion)
Smooth philtrum (groove between nose and upper lip)
flat of the groove between nose and upper lip
Thin upper lip
Small palpebral fissure
Growth restriction
CNS damage
Fetal alcohol syndrome
Long, narrow face
Arched palate
Crowded teeth
Marfan syndrome:
Micrognathia
Glossoptosis (upper airway obstruction)
Cleft palate
Pierre Robin syndrome:
Triangular face
Small jaw
Downturned mouth
Russell-Silver syndrome:
Large for gestational age
Excessive growth in 1st year of life
Large head , frontal prominence
Large hand and feet
Premature tooth eruption
Intellectual disability
Behavioral problems (Autism)
Seizure
Hypotonia
Monotone voice
Sotos syndrome
Eczema-like rash on face and body
Wide-set eyes
Wiskott-Aldrich syndrome
