Paediatrics Flashcards
What condition is caused by FGFR3 mutations?
Achondroplasia
What mutation causes Achondroplasia? How is it inherited?
FGFR3 mutation. Autosomal dominant. (Peter dinklage) Look for trident hand and bossed forehead + rhizomelic shortening
What mutation causes ectodermal dysplasia? Key features?
AKA split hand, split foot, cleft syndrome (ectrodactyly-ectrodermal dysplasia-cleft syndrome EEC) P63 missense mutations mostly. autosomal dominant. Look for dry perioral skin, sparse hair, mid-face hypoplasia, few permanent teeth (conical), small mouth and dystrophic nails.
What is noonan syndrome? Causes? Features?
Disorder: unusual facies, short, congenital heart defects, bleeding diathesis, dev delay, ribcage bone (pectus excavatum/carinatum).
Autosomal dominant gene changes in PTPN11, SOS1, RAF1, KRAS.
1 in 1000-2500. Often de novo mut. (Ras-opathy)
Deep philtrum, wide spaced eyes (pale blue/blue green), micrognathia. Broad/webbed neck, strabismus/eye problems, wide spaced, low set nipples, cryptorchidism
Cause of Angelman Syndrome?
Neurodevelopmental disorder due to loss of function of UBE3A on maternal Ch15 (deletion, mutation) or paternal uniparental disomy (inherit two paternal copies). In certain areas of brain only maternal copy is active (paternal copy silenced) so in AS no active copies in some areas of brain.
Features of ANgelman syndrome?
‘Happy puppet’ syndrome. Ataxia, happy excitable, laughter/smiling, hyperactive, short attention span. Delayed development (by 6-12m), speech impairment, intellectual disability, recurrent seizures, microcephaly, reduced sleep needs/difficulty sleeping. Fair skinned, scoliosis, pronounced jaw, widely spaced teeth, fascinated with water.
What is Treacher-Collins Syndrome?
Mandibulofacial dysostosis, rare genetic disorder. Abnormal dev of face/head especially zygomatic, nasal, lacrimal and temporal bones, ethmoid, maxilla and mandible. Highly variable, affects 1 in 10k. Severe micrognathia, glossoptosis, cleft palate. Obstructive breathing, poor hearing, dentition and vision.
Cause of Treacher collins syndrome?
Mutation of 1 of 3 genes. Most often it is TCOF1 of Ch5. TCOF1 or POLR1D autosomal dominant inheritance. POLR1C autosomal recessive. Most are de novo mutations. Highly variable
Cause of Prader-Williams Syndrome?
Most are deletion of paternal part of Ch15 (Autosomal dominant disorder), maternal uniparental disomy, translocations/inactivations. Loss of function of small nucleolar RNAs (snoRNAs), SNORD116 cluster.
Key features of prader-Willi Syndrome?
Hypotonia, feeding problems, delayed development, lethargy, intellectual disability. Insatiable appetite from childhood -> hyperplasia and obesity (T2DM) . Behavioural and sleep problems. Narrow forehead, almond shaped eyes, triangular mouth, short, small hands and feet, hypogonadism, infertile.
What is Wiscott Aldrich Syndrome?
X linked immunodeficiency
Triad of recurrent bacterial sinopulmonary infections, eczema, and bleeding diathesis (thrombocytopaenia and platelet dysfunction)
Cause of molluscum contagiosum?
Poxvirus
What is alport’s syndrome?
congenital nephritis + deafness
What is tetralogy of Fallot?
VSD, PS, RVH, over-riding aorta.
What is Fanconi’s anaemia?
Congenital aplastic anaemia
