Beals–Hecht syndrome

Also known as: Congenital contractural arachnodactyly

Marfan-like body habitus with contractures and crumpled ears.

Medical specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: FBN2

Etiology & mechanism

FBN2 variants.

Gene(s) involved (1)

FBN2

Symptoms & signs (7)

aortic root dilationarachnodactylycrumpled earsjoint contractureskyphoscoliosismitral valve prolapsemuscular hypoplasia

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