Triploid Syndrome

Triploid syndrome
A karyotype of a person who has this genetic disorder.
Classification and external resources
Specialty	medical genetics
ICD-10	Q92.7
ICD-9-CM	758.5
DiseasesDB	32658
MeSH	D057885
Orphanet	3376
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Triploid syndrome, also called triploidy, is an extremely rare chromosomal disorder, in which a fetus has three copies of every chromosome instead of the normal two. If this occurs in only some cells, it is called mosaic triploidy, and is less severe.

Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely and obviously affected. Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (water on the brain), ventriculomegaly, Arnold-Chiari malformation, agenesis of the corpus callosum, and neural tube defects. Skeletal manifestations include cleft lip/palate, hypertelorism, club foot, and syndactyly of fingers three and four. Congenital heart defects, hydronephrosis, omphalocele, and meningocele (spina bifida) are also common. Cystic hygromas occur but are uncommon. Triploid fetuses have intrauterine growth restriction beginning early in the pregnancy, as early as 12 weeks, and does not affect the head as severely as the body. Oligohydramnios, low levels of amniotic fluid, is common in triploid pregnancies.

Placental abnormalities are common in triploidy. Most frequently, the placenta is enlarged and may have cysts within. In some cases, the placenta may be unusually small, having ceased to grow.

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