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Start free with EleplanTrisomy 13 syndrome
ORPHA:3378Malformation syndrome
Also called Patau syndrome
What it is
A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
24- Abnormal cardiovascular system morphology
- Abnormality of pelvic girdle bone morphology
- Abnormality of speech or vocalization
- Abnormality of the fontanelles or cranial sutures
- Anophthalmia
- Atrial septal defect
- Bilateral single transverse palmar creases
- Cleft palate
- Cognitive impairment
- Cystic hygroma
- Hydrops fetalis
- Hypotelorism
- Hypotonia
- Intellectual disability, severe
- Intrauterine growth retardation
- Low-set ears
- Malar flattening
- Median cleft lip
- Microphthalmia
- Patent ductus arteriosus
- Postaxial hand polydactyly
- Seizure
- Severe global developmental delay
- Ventricular septal defect
Common30–79%
35- Abnormal dermatoglyphics
- Abnormal eyelash morphology
- Abnormal helix morphology
- Abnormality of the antihelix
- Abnormality of the dentition
- Abnormality of the eye
- Abnormality of the middle ear
- Abnormality of the ureter
- Abnormality of vision
- Abnormal lung lobation
- Abnormal morphology of female internal genitalia
- Abnormal retinal vascular morphology
- Abnormal rib morphology
- Aplasia/Hypoplasia of the iris
- Capillary hemangioma
- Cataract
- Chiari malformation
- Cryptorchidism
- Deeply set eye
- Displacement of the urethral meatus
- Ectrodactyly
- Hernia
- High, narrow palate
- Hydronephrosis
- Iris coloboma
- Kyphosis
- Long philtrum
- Multiple renal cysts
- Narrow chest
- Optic atrophy
- Preauricular pit
- Preauricular skin tag
- Scoliosis
- Sensorineural hearing impairment
- Skull defect
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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