Bowen-Conradi syndrome

Orpha code: 1270OMIM code: 211180

Definition

A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.

Disease data
Classification

Malformation syndrome

Synonyms
Bowen syndrome, Hutterite type
Zespół Bowena, typ Hutterite
ORPHA code
1270
OMIM code
211180
ICD10 code
Q87.8
ICD11 code
LD20.2

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl