Orphanet: Triploidy

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Triploidy

Disease definition

Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.

ORPHA:3376

Classification level: Disorder

Synonym(s): -
Prevalence: Unknown
Inheritance: Not applicable or Unknown
Age of onset: Neonatal, Antenatal
ICD-10: Q92.7
ICD-11: LD42.0
OMIM: -
UMLS: C0333693
MeSH: D057885
GARD: 5295
MedDRA: -

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Triploidy

ORPHA:3376

A summary on this disease is available in Français (2004) Español (2018) Italiano (2018) Nederlands (2018)

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