Cornelia de Lange Flashcards by Sarah Fernandez | Brainscape

Q

What is the inheritance pattern for Cornelia de Lange syndrome?

A

AD

Usually sporadic

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

What are the clinical manifestations for Cornelia de Lange syndrome?

A

Malformations of the upper extremities
Synophrys (unibrow)
Arched eyebrows
Long eyelashes
Microcephaly
MR
Autistic
Self-destructive behavior
Cardiac septal defects
Hearing loss
Myopia
Cleft palate
GU abnormalities (cryptorchidism or hypoplastic genitalia)
Congenital diaphragmatic hernia

How well did you know this?

1

Not at all

2

3

4

5

Perfectly