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EXAM PREP > Important Congenital Anomaly Syndromes to Know > Flashcards

Important Congenital Anomaly Syndromes to Know Flashcards

1
Q

Treacher Collins Sydrome

A 
Mandiculofacial dysostosis
- Cleft palate
- Malar hypoplasia
- micrognathia
- lower eyelid missine medial lower lid lashes
- conductive hearing loss 
ear anomilies

AD
TCOF1

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2
Q

Waardenburg Syndrome Type 1

A 
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

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3
Q

Stickler Syndrome

A

Pierre robin sequence
High myopia
Retinal detachment
Midface hypoplasia

AD

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4
Q

Crouzon syndrome

A 
Craniosynostosis 
Hypertelorism
Proptosis
Strabismus 
Maxillary hypoplasia

AD

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5
Q

Ataxia Telangiectasia

A 
Ataxia
Telangiectasia - esp. sclera 
Frequent infections 
Malignancies 
Growth failure 
Worsening CNS function

AR
ATM gene

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6
Q

Bloom syndrome

A 
IUGR
Microcephaly 
Malar hypoplasia
Facial telangiectasia
Malignancies

AR

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7
Q

Fanconi Anaemia

A

Pancytopenia
Hypoplastic thumb and radius
Hyperpigmentation (cafe au lait)
Abnormal facial features

AR

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8
Q

Noonan syndrome

A 
Short
Pulm valve stenosis 
Pectus excavatum
Web neck
Low set ears 
Hypertelorism
Lymphadema
Bleeding diathesis

AD

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9
Q

Williams Syndrome

A 
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)

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10
Q

Cornelia de Lange Syndrome

A 
IUGR
Microcephaly
Hirsutism
Down turned mouth
Cardiac defects
Microbracycephaly
Micrognathia
Low hairbrow
Synophrys 
Small hands/feet
2,3 syndactyly of toes

AD

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11
Q

Prader Willi Syndrome

A

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
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12
Q

Angelman Syndrome

A 
15q11-13 deletion - maternal - 70% 
Jerky ataxic movements (happy puppet)
Microcephaly
Hypotonia 
Midface hypoplasia
Seizures
Uncontrollable laughter 
Severe ID
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13
Q

Beckwith Wiedemann

A

AD - 11p15.5 deletion

LGA
Generalised overgrowth
Macroglossia
Ear lobe creases
Posterior auricular pits
Omphalocele
Wilms tumour
Cryptochidism
Hemihypertrophy
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14
Q

Diamond-Blackfan syndrome

A 
Triphalangeal thumb
Radial hypoplasia
Hypoplastic anaemia
Congenital cardiac defects 
AD
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15
Q

Thrombocytopenia with absent radius syndrome

A 
Thrombocytopenia
Absent radii
Normal thumbs
Petechiae
AR
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16
Q

Holt Oram Syndrome

A

Radial ray abnormalities - triphalangeal thumb
ASD in 75%
No hematological abnormalities

AD

17
Q

Rubinstein-Taybi Syndrome

A 
Short stature and limbs
Microcephaly
Beaked nose 
Broad thumb/great toes 
Congenital cardiac disease 
ID

AD

18
Q

Sturge Weber Syndrome

A

Hemangioma in trigeminal nerve distribution
Glaucoma
Seizures
Meningeal hemangiomata

Sporadic

19
Q

Rett Syndrome

A 
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%

20
Q

Menkes disease

A

Progressive neurologic deterioration
Sparse/broken hair
Skeletal changes
Decreased serum coppor and ceruloplasmin

X linked

21
Q

Wilson disease

A

Kayser Fleischer rings
Abnormal copper metabolism
- neuro, liver, psych manifestations
Low ceruloplasmin, elevated urine copper

AR

22
Q

Zellweger syndrome

A 
Hypotonia
Flat occiput
Epicanthal folds 
Hepatomegaly
Camptodactyly
Cerebral defects
Retinal lesions
Renal cysts
Peroxisomal defects

AR

23
Q

Glutaric acidemia II

A

Hepatomegaly
Facial dysmorphism
Renal cysts
GU anomalies

AR

24
Q

Smith-Lemli-Opitz syndrome

A 
Short
Microcephaly
Ptosis 
Anteverted nares 
Syndactyly of 2,3 toes 
Cryptochidism
Hypospadius
ID
Cholesterol metabolism defect

AR

25
Q

Kallman Syndrome

A

Short stature
ID
Hypogonadotrophic hypogonadism
Anosmia

X linked

26
Q

VACTERL

A 
Vertebral defects
Anal Atresia
Congenital heart defect
Trans-Eosophageal fistula
Renal abnormalities 
Limb - radial dysplasia

Sporadic

27
Q

CHARGE

A 
Coloboma 
Heart defects 
Atresia - choanal
Retardation - growth and intellectual
GU anomalies - hypogonadism
Ear anomaly

AD - CHD7

28
Q

McCune Albright syndrome

A

Multiple bony fibrous dysplasia
Cafe au lait spots - coast of maine
Precocious puberty

Spontaneous

29
Q

Alagille syndrome

A 
Bile duct paucity with cholestatis
Peripheral pulm stenosis
Posterior embryotoxin
Butterfly vertebrae
Triangular facies

AD - JAG1

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