DDx Flashcards
1
Q
Craniosynostosis
A
Saethre-Chotzen Syndrome Pfeiffer syndrome Apert syndrome Crouzon syndrome Muenke craniosynostosis Curry-Jones syndrome Craniofrontonasal dysplasia Carpenter syndrome Greig cephalopolysyndactyly syndrome Antley-Bixler syndrome Baller-Gerold syndrome Cranioectodermal dysplasia (sagittal) FGFR3-Associated Coronal synostosis syndrome Loeys-Dietz syndrome Shprintzen-Goldberg syndrome
2
Q
Osteopetrosis syndromes
A
Osteopetrosis (AR lethal)
Lenz-Majewski hyperostosis syndrome
Pyknodysostosis
Cleidocranial dysostosis
3
Q
Ciliopathies
A
Meckel-Gruber Syndrome Bardet-Biedl syndrome Oral-facial-digital syndrome type I Alstrom syndrome Hydrolethalus syndrome Joubert syndrome
4
Q
Hypertonicity
A
Cornelia de Lange Deletion 18p Gomez-Lopez-Hernandez Hunter syndrome Menkes Syndrome Schinzel-Giedion Syndrome Smith-Lemli Opitz syndrome Trisomy 18 Weaver syndrome X-Linked alpha thal/mental retardation syndrome
5
Q
Ataxia
A
Angelman syndrome Cockayne Syndrome Gomez-Lopez-Hernandez syndrome Microdeletion 3q29 Xq Distal duplication
6
Q
Anencephaly/MMC
A
Acrocallosal syndrome (anenecephaly) Amnion rupture sequence Caudal dysplasia sequence (MMC) Cerbro-costo-mandibular syndrome (MMC) CHILD syndrome Curry-Jones syndrome (Occipital MMC) Extrophy of cloaca sequence Fanconi pancytopenia syndrome Fetal alcohol syndrome (MMC) Fetal aminopterin/MTX syndrome Fetal valproate syndrome (MMC) Fraser syndrome (MMC) Hydrolethalus syndrome (anencephaly) Jarcho-Levin syndrome Limb-body wall complex Meckel-Gruber syndrome Okihiro syndrome (MMC) T13 T18 Wardenburg
7
Q
Encephalocele
A
Meckel-Gruber syndrome (freq) Walker-Warburg syndrome (freq) Adams-Oliver syndrome Fraser syndrome Limb-Body wall complex Pallister-Hall syndrome
8
Q
Hydrocephalus
A
Curry-Jones syndrome Hydrolethalus syndrome Loeys-Dietz syndrome Macrocephaly-capillary malformation syndrome Osteopetrosis Shprintzen-Goldberg syndrome 3C's syndrome Walker-Warburg syndrome X-linked hydrocephalus syndrome
9
Q
Anterior upsweep
A
Fetal amniopterin/MTX syndrome FG syndrome Johanson-Blizzard syndrome Rubinstein-Taybi syndrome T13
10
Q
Posterior midline scalp defects
A
Adams-Oliver syndrome Curry-Jones syndrome Deletion 4p syndrome Finlay-Marks syndrome Johanson-Blizzard syndrome T13
11
Q
Synophrys
A
Cornelia de Lange Deletion 3p Deletion 9p Duplication 3q Hajdu-Cheney syndrome Sanfilippo syndrome Smith-Magenis syndrome Waardenberg syndrome
12
Q
Lacrimal Defects
A
Branchio-oculo-facial syndrome Ectrodactyly-ectodermal dysplasia-clefting syndrome Hypohidrotic ectodermal dysplasia Johanson-Blizzard syndrome (fistulae) Lenz-Majewski hyperostosis syndrome Levy-Hollister syndrome Melnick-Fraser syndrome Saethre-Chotzen syndrome
13
Q
Blue sclerae
A
Loeys-Dietz syndrome Marshall-Smith syndrome OI type I OI type II Roberts syndrome Russell-Silver syndrome
14
Q
Colobomata of Iris
A
Aniridia-Wilms Tumor Axenfeld-Rieger syndrome Branchio-Oculo-Facial syndrome Cat-Eye syndrome CHARGE Curry-Jones syndrome Deletion 4p Deletion 13q Donnai-Barrow Goltz Methimazole/carbimazole embryopathy Trisomy 13 Walker-Warburg
15
Q
Brushfield Spots
A
T21
Smith-Magenis Syndrome
XXXY syndrome
Zellweger syndrome
