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
Holt Oram Syndrome
Radial ray abnormalities - triphalangeal thumb
ASD in 75%
No hematological abnormalities
AD
Rubinstein-Taybi Syndrome
Short stature and limbs Microcephaly Beaked nose Broad thumb/great toes Congenital cardiac disease ID
AD
Sturge Weber Syndrome
Hemangioma in trigeminal nerve distribution
Glaucoma
Seizures
Meningeal hemangiomata
Sporadic
Rett Syndrome
Females, normal until 18mo Rapid regression in language/motor Stereotypic hand movements - wringing Autistic features Apnoea Gait ataxia Seizures Microcephaly
X-linked dominant - MECP2 gene
Mostly new mutations 99%
Menkes disease
Progressive neurologic deterioration
Sparse/broken hair
Skeletal changes
Decreased serum coppor and ceruloplasmin
X linked
Wilson disease
Kayser Fleischer rings
Abnormal copper metabolism
- neuro, liver, psych manifestations
Low ceruloplasmin, elevated urine copper
AR
Zellweger syndrome
Hypotonia Flat occiput Epicanthal folds Hepatomegaly Camptodactyly Cerebral defects Retinal lesions Renal cysts Peroxisomal defects
AR
Glutaric acidemia II
Hepatomegaly
Facial dysmorphism
Renal cysts
GU anomalies
AR
Smith-Lemli-Opitz syndrome
Short Microcephaly Ptosis Anteverted nares Syndactyly of 2,3 toes Cryptochidism Hypospadius ID Cholesterol metabolism defect
AR
