Genetic Syndromes Flashcards
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Patau’s syndrome
Trisomy 13
Micrognathia
Low-set ears
Rocker bottom feet
Overlaping of fingers
Edward’s syndrome
Trisomy 18
Learning difficulties Macrocephaly Long face large ears Macro-orchidism
Fragile X
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Noonan syndrome
Micrognathia
Posterior displacement of the tongue
Cleft palate
Pierre-Robin syndrome
Imprinting disorder: deleted gene from father
Obese
Hypotonia
Hypogonadism
Prada-Willi syndrome
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
William’s syndrome
Wilms tumour
Anirida
Genitourinary anomalies
Intellectual disability
WAGR syndrome
Congenital sensori-neural hearing loss
Pendred Syndrome
depigmented 'ash leaf' spots shagreen patches - over lumbar spine sometimes café au lait spots hamartomas in the brain learning difficulties, developmental delay, epilepsy
Tuberous Sclerosis
anosmia or hyposmia
delay or failure to start puberty
Kallmann syndrome
Café au lait patches
Early puberty, increased rate of growth
Deformity of legs, arms and skull
McCune-Albright Syndrome
café au lait spots
neurofibromas
learning difficulties
Neurofibromatosis 1
Present late teens
Gradual hearing loss
Cataracts
Some café au lait
Neurofibromatosis 2
Imprinting: deleted gene from mother
Angelman’s syndrome
