Childhood syndromes Flashcards
Patau syndrome
- trisomy 13 (13 letters in patau)
- polydactly
- cleft palate
- microcephalic
- scalp lesions
Edward’s syndrome
Eighteen (trisomy 18) + ears (low set) Digits (overlapping) Wide head (prominent occiput) Absent intellect (intellectual difficulties) Rocker bottom feet Diseased heart - septal defects, PDA Small jaw (micrognathia)
Fragile X
- CGG repeats
- often in older men (less severe in women as they have 2 x chromosomes)
- considered x-linked dominant inheritance
- tends to present during puberty
Features in males
- learning difficulties
- large low set ears, long thin face, high arched palate
- macrognathia
- macroorchidism
- hypotonia (joint laxity)
- AUTISM IS MORE COMMON
- mitral valve prolapse
Features in females (who have one fragile chromosome and one normal X chromosome) range from normal to mild
Noonan syndrome
Sun SPEWs rays at NOON
Short stature
Pulmonary stenosis
Excavatum (pectus excavatum or pectus carinatum)
Webbed neck
Pierre- Robin sequence
Palate (cleft) only Retracted tongue (posterior displacement of tongue which can cause upper airway obstruction) Small jaw (micrognathia)
*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems
Praeder-Willi syndrome
OHH!
Obesity
Hypogonadism
Hypotonia
William’s syndrome
W- weight (low birth weight) I- iris (stellate iris) Large philtrum (elongated philtrum) Large mouth Increased calcium (hypercalcaemia) Aortic stenosis (supravalvular) Mental retardation (learning difficulties) Swelling around eyes, SOCIAL, short stature, strabismus
elf-like appearance
patho: inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
* diagnosis made by FISH studies
Cri-du chat
Cat-like cry- laryngeal and neuro issues Hypertelorism- features far apart (eg eyes) Intellectual disability Microcephaly, micrognathia Feeding difficulties- poor weight gain
*chromosome 5p deletion syndrome
Down’s syndrome
Clinical features
o face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
o flat occiput
o single palmar crease, pronounced ‘sandal gap’ between big and first toe
o hypotonia
o congenital heart defects (40-50%, see below)
o duodenal atresia
o Hirschsprung’s disease
Cardiac complications
o multiple cardiac problems may be present
o endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
o ventricular septal defect (c. 30%)
o secundum atrial septal defect (c. 10%)
o tetralogy of Fallot (c. 5%)
o isolated patent ductus arteriosus (c. 5%)
Later complications
o subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
o learning difficulties (also associated with ADHD). ALSO ASSOCIATED WITH AUTISM!!!
o short stature
o repeated respiratory infections (+hearing impairment from glue ear)
o acute lymphoblastic leukaemia
o hypothyroidism
o Alzheimer’s disease
o atlantoaxial instability
