Genetic Conditions - Dysmorphology Flashcards
1
Q
22q11.2
A
Learning difficulties Cleft palate Velopharyngeal insufficiecy Heart defects Hypocalcaemia Seizures Immune deficiency Renal malformation
2
Q
Achondroplasia
A
AD Risk increases with paternal age Rhizomelic limb shortening Short stature Foramen magnum compression
3
Q
Beckwith-Wiedemann syndrome
A
Large tongue Ear pits Exopthalmos Hemihypertrophy Hypoglycaemia Increased risk of nephroblastoma
4
Q
Kabuki Syndrome
A
Learning difficulties Heart defects Poor growth Hearing impairment Cleft palate Premature breasts Foetal finger pad retention
5
Q
Peutz-Jeghers
A
GI polyps - bleeding, obstruction
Malignancy - colorectal, gastric, pancreatic, breast, ovarian
6
Q
Treacher-Collins
A
AD
Cleft palate
Hearing impairment
7
Q
Waardenburg syndrome
A
Sensorineural hearing impairment Iris heterochromia Premature greying White forelock Areas of skin hypopigmentation Congenital malformations - Hirschprungs, VSD
8
Q
William’s syndrome
A
7q11 deletion Learning difficulties Cocktail party speech Aortic and pulmonary artery stenosis Hypercalcaemia
