Important Congenital Anomaly Syndromes to Know Flashcards
Treacher Collins Sydrome
Mandiculofacial dysostosis - Cleft palate - Malar hypoplasia - micrognathia - lower eyelid missine medial lower lid lashes - conductive hearing loss ear anomilies
AD
TCOF1
Waardenburg Syndrome Type 1
Partial albanism White forelock Premature greying Lateral displacement of inner canthi of eyes Heterochromia eyes Cleft lip/palate Cochlear deafness Absent vagina
AD
90% PAX3 mutation
Stickler Syndrome
Pierre robin sequence
High myopia
Retinal detachment
Midface hypoplasia
AD
Crouzon syndrome
Craniosynostosis Hypertelorism Proptosis Strabismus Maxillary hypoplasia
AD
Ataxia Telangiectasia
Ataxia Telangiectasia - esp. sclera Frequent infections Malignancies Growth failure Worsening CNS function
AR
ATM gene
Bloom syndrome
IUGR Microcephaly Malar hypoplasia Facial telangiectasia Malignancies
AR
Fanconi Anaemia
Pancytopenia
Hypoplastic thumb and radius
Hyperpigmentation (cafe au lait)
Abnormal facial features
AR
Noonan syndrome
Short Pulm valve stenosis Pectus excavatum Web neck Low set ears Hypertelorism Lymphadema Bleeding diathesis
AD
Williams Syndrome
Growth delay ID Stellate iris Hypoplastic nails Periorbital fullness Anteverted nares Supravalvular aortic stenosis Cocktail party personality
7q11.23 microdeletion
(Think Will Ferrell in Elf)
Cornelia de Lange Syndrome
IUGR Microcephaly Hirsutism Down turned mouth Cardiac defects Microbracycephaly Micrognathia Low hairbrow Synophrys Small hands/feet 2,3 syndactyly of toes
AD
Prader Willi Syndrome
15q11-13 paternal deletion - 70%
Mat uniparental disomy 25%
Severe hypotonia at birth + feeding issues Obesity >2yo Short stature Hypogonadism Mild ID Small hands/feet
Angelman Syndrome
15q11-13 deletion - maternal - 70% Jerky ataxic movements (happy puppet) Microcephaly Hypotonia Midface hypoplasia Seizures Uncontrollable laughter Severe ID
Beckwith Wiedemann
AD - 11p15.5 deletion
LGA Generalised overgrowth Macroglossia Ear lobe creases Posterior auricular pits Omphalocele Wilms tumour Cryptochidism Hemihypertrophy
Diamond-Blackfan syndrome
Triphalangeal thumb Radial hypoplasia Hypoplastic anaemia Congenital cardiac defects AD
Thrombocytopenia with absent radius syndrome
Thrombocytopenia Absent radii Normal thumbs Petechiae AR