| Q87.0 |
Congenital malformation syndromes predominantly affecting facial appearance
Acrocephalopolysyndactyly
Acrocephalosyndactyly [Apert]
Cryptophthalmos syndrome
Cyclopia
Syndrome:
· Goldenhar
· Moebius
· oro-facial-digital
· Robin
Whistling face
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| Q87.1 |
Congenital malformation syndromes predominantly associated with short stature
Syndrome:
· Aarskog
· Cockayne
· De Lange
· Dubowitz
· Noonan
· Prader-Willi
· Robinow-Silverman-Smith
· Russell-Silver
· Seckel
· Smith-Lemli-Opitz
Excludes:
- Ellis-van Creveld syndrome ( Q77.6 )
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| Q87.2 |
Congenital malformation syndromes predominantly involving limbs
Syndrome:
· Holt-Oram
· Klippel-Trenaunay-Weber
· nail patella
· Rubinstein-Taybi
· sirenomelia
· thrombocytopenia with absent radius [TAR]
· VATER
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| Q87.3 |
Congenital malformation syndromes involving early overgrowth
Syndrome:
· Beckwith-Wiedemann
· Sotos
· Weaver
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| Q87.4 |
Marfan's syndrome
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| Q87.5 |
Other congenital malformation syndromes with other skeletal changes
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| Q87.8 |
Other specified congenital malformation syndromes, not elsewhere classified
Syndrome:
· Alport
· Laurence-Moon(-Bardet)-Biedl
· Zellweger
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