Mosaic trisomy 8

Orpha code: 96061OMIM code:

Definition

A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.

Disease data
Classification

Malformation syndrome

Synonyms
Mosaic trisomy chromosome 8
Zespół Warkany
Trisomy 8 mosaicism
Warkany syndrome
ORPHA code
96061
OMIM code
-
ICD10 code
Q92.1
ICD11 code
-

No additional description.

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