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Congenital abnormality syndromes
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Congenital abnormality
syndromes
Craniofacial
Acrocephalosyndactyly
Apert syndrome
Carpenter syndrome
Pfeiffer syndrome
Saethre–Chotzen syndrome
Sakati–Nyhan–Tisdale syndrome
Bonnet–Dechaume–Blanc syndrome
Other
Baller–Gerold syndrome
Cyclopia
Goldenhar syndrome
Moebius syndrome
Pierre Robin sequence
Short stature
1q21.1 deletion syndrome
Aarskog–Scott syndrome
Cockayne syndrome
Cornelia de Lange syndrome
Dubowitz syndrome
Noonan syndrome
Robinow syndrome
Silver–Russell syndrome
Seckel syndrome
Smith–Lemli–Opitz syndrome
Snyder–Robinson syndrome
Turner syndrome
Limbs
Adducted thumb syndrome
Holt–Oram syndrome
Klippel–Trénaunay syndrome
Nail–patella syndrome
Rubinstein–Taybi syndrome
Gastrulation
/
mesoderm
:
Caudal regression syndrome
Ectromelia
Sirenomelia
VACTERL association
Overgrowth syndromes
Bannayan–Riley–Ruvalcaba syndrome
Beckwith–Wiedemann syndrome
Benign symmetric lipomatosis
Klippel–Trénaunay syndrome
Neurofibromatosis type I
Perlman syndrome
Proteus syndrome
Sotos syndrome
Tatton-Brown–Rahman syndrome
Weaver syndrome
Laurence–Moon–Bardet–Biedl
Bardet–Biedl syndrome
Laurence–Moon syndrome
Combined/other,
known locus
2
(
Feingold syndrome
)
3
(
Zimmermann–Laband syndrome
)
4
/
13
(
Fraser syndrome
)
8
(
Branchio-oto-renal syndrome
,
CHARGE syndrome
)
12
(
Keutel syndrome
,
Timothy syndrome
)
15
(
Marfan syndrome
)
19
(
Donohue syndrome
)
Multiple
Fryns syndrome
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