Dysmorphology (9) Flashcards
Dysmorphology
Things not being properly formed, mainly features in the face, features change with age often easier to diagnose in children than babies/adults
Congenital malformations
2-3% of births, more likely to be genetic if multiple malformations, dysmorphic, family history
How common is the 22q11.2 deletion?
1 in 5,000
22q11.2 symptoms
Very variable, learning difficulties, cleft palate, velopharyngeal insufficiency, congenital heart defect, hypocalcaemia, seizures, immune deficiency, renal malformation
How common is Achondroplasia?
1 in 20,000
How is Achondroplasia inherited?
Autosomal dominant, usually new mutation (sperm increase in paternal age)
How common is Beckwith-Wiedemann syndrome?
1 in 10,000
Beckwith-Wiedemann syndrome symptoms
Large tongue, ear pits/creases, exomphalos, hemihypertrophy, neonatal hypoglycaemia, increased risk of Wilms tumour/nephroblastoma, big baby, umbilical hernia, one leg/arm bigger than the other
What is exomphalos?
Weakness of abdominal wall allowing abdominal contents to protrude
How common is Downs syndrome?
1 in 800 live births, commonest chromosomal disorder
Downs syndrome symptoms
Learning difficulties, congenital heart disease, hypotonia in neonates, single palmar crease, cataracts, hearing impairment, hypothyroidism, leukaemia, atlanto-axial instability, Alzheimer’s
How common is Kabuki syndrome?
1 in 30,000
Kabuki syndrome symptoms
Learning difficulties, congenital heart disease, poor growth, hearing impairment, cleft palate, premature breast development, persistent fetal finger pads, eversion of lateral 1/3rd of lower eyelid
Mosaicism symptoms
Hypo/hyper pigmented patches, may follow Blaschko’s lines
Mosaicism diagnosis
Skin biopsy
How common is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome symptoms
- GI polyps > bleeding and obstruction
- Malignancies - colorectal, gastric, pancreatic, ovarian, breast
- Pigmentation on and around lip
How common is Treacher-Collins syndrome?
1 in 50,000
How is Treacher-Collins syndrome inherited?
Autosomal dominant
Treacher-Collins syndrome symptoms
Very variable, cleft palate, hearing impairment
How common is Waardenburg syndrome?
1 in 250,000
Waardenburg syndrome symptoms
Sensorineural hearing impairment, iris heterochromia (2 colours), premature greying, white forelock, areas of skin hypo pigmentation, congenital malformations (VSD/Hirschprungs)
How common is William’s syndrome?
1 in 20,000
How is William’s syndrome inherited?
7q11 deletion
William’s syndrome symptoms
Learning difficulties, bad spatial awareness, ‘cocktail party’ speech, congenital heart disease (supravalvular aortic stenosis/peripheral pulmonary artery stenosis), hypercalcaemia
Smith-Lemli Opitz syndrome symptoms
Long philtrum, microcephaly, low set ears, tiny chin
What is a test for Smith-Lemli Optiz syndrome?
Cholesterol
Pollister-Killian syndrome inheritance
Mosaic tetrasomy for 12p
Pollister-Killian syndrome symptoms
Congenital malformations and developmental delay
