week 5 Flashcards
what is the cause of single malformations?
caused by a isolated event
how often does 22q11.2 deletion occur?
1 in 5,000
what are the symptoms of 22q11.2?
Can vary dramatically
Learning difficulties ~70% just need a bit of help in school
Cleft palate ~15% palate not working properly when its not cleft
Velopharyngeal insufficiency 32%
what disease are assocaited with 22q11.2?
Congenital heart defect 75% Hypocalcaemia -->get fits associated with that Seizures Immune deficiency Renal malformation Thrombocytopenia Hearing loss
what is thrombocytopenia?
a decreae in blood platelets
what type of immuno deficiency disease can person with 22q11.2 develop?
graves diseae and rheumatoid arthritis
what is achondroplasia?
It is a hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.
what is the reccurence rate of achondroplasia and what type of mutation is it?
1 in 20000
autosomal dominant
what mutation causes achondroplasia and what risk factors are there?
FGFR3 on chromosome 4 accounts for 99% of instants. Chances of passing this increase with paternal age as the mutation occurs in the sperm
what are the symptoms of achondroplasia
Rhizomelic limb shortening
Short stature
Foramen magnum compression/ hydrocephalus
what is the recurrence rate of Beckwith-Wiedemann syndrome and its signs?
large tongue, ear pits/creases
what can Beckwith-Wiedemann syndrome cause?
Exomphalos –> is a weakness of the baby’s abdominal wall where the umbilical cord joins it.
Hemihypertrophy –> is a condition in which one side of the body or a part of one side is larger than the oth
Neonatal hypoglycaemia
Increased risk of Wilms tumour (nephroblastoma)
what is the most common chromosomal disorder?
down syndrome –> 1 in 800
what are the symptoms of down syndrome?
Learning difficulties Congenital heart disease Hypotonia in neonates Single palmar cease Have wide sandal gap Cataracts Hearing impairment
what disease can down syndrome increase your likely hood of having
Hypothyroidism
Leukaemia
Atlanto-axial instability
Alzheimer’s disease
what is the recurrence rate of kabuki syndrome?
1 in 30000
what is the hallmark feature of kabuki syndrome?
eversion of the lateral 1/3rd of the lower eye lid
what are the symtpoms of kabuki syndrome?
Hearing impairment Cleft palate Premature breast development Persistent fetal finger pads (96%) Learning difficulties Congenital heart disease (50%)
what is teh recurrence of Peutz-Jeghers syndrome?
with peutz jeghers syndrome what can the Gastrointestinal polyps cause?
bleeding and polyps
wich Peutz jeghers syndrome which maligancy are more likely to occur?
Colorectal Gastric Pancreatic Breast Ovarian
what is Peutz-Jeghers syndrome?
rare cancer disorder that has disphormic features
what is Treacher-Collins syndrome?
it is a condition that affects the development of bones and tissues in the face
what is the recurrence rate of Treacher-Collins syndrome and what type of mutation is it?
1 in 50000 and its autosomal dominant
what affect does Treacher-Collins syndrome have to the face?
underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia).
Cleft palate
Hearing impairment
coloboma
It’s also characterized by absent, small, or unusually formed ears.
what is the recurrence of Waardenburg syndrome?
1 in 250000
what are the symtpoms of Waardenburg syndrome?
Sensorineural hearing impairment
Iris heterochromia –>condition of different colored irises
Premature greying
White forelock
Areas of skin hypopigmentation –> loss of skin color
Congenital malformations (Hirschprungs/ VSD)
what is Hirschprungs?
it is a condition of the large intestine that causes difficult passing stool
what is the cause of williams syndrome and how often it occurs?
7q11 deletion –> 1 IN 20,000
what are the symtpoms of williams syndrome?
Learning difficulties Unique personality characteristic and distinctive facial features Congenital heart disease Problem with special awareness Hypercalcaemia Hypertension as well
what congenital heart disease comes with Williams syndrome?
Supravalvular aortic stenosis –> is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta).
Peripheral pulmonary artery stenosis
what facial features are prominant in Williams syndrome?
broad forehead, short nose with a broad tip, full cheeks and wide mouth
Dental problems–> smell, widely spaced teeth that are crooked or missing
