Trisomy 13

Orpha code: 3378OMIM code:

Definition

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

Disease data
Classification

Malformation syndrome

Synonyms
Patau syndrome
Zespół Patau'a
ORPHA code
3378
OMIM code
-
ICD10 code
Q91.7
ICD11 code
LD40.1

No additional description.

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