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Start free with EleplanCantú syndrome
ORPHA:1517Malformation syndrome
Also called Congenital hypertrichosis-acromegaloid facial features spectrum · Congenital hypertrichosis-coarse facial features spectrum · Hypertrichotic osteochondrodysplasia
What it is
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- 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%
13Common30–79%
21- Anteverted nares
- Broad hallux phalanx
- Broad ribs
- Cuboid-shaped vertebral bodies
- Deep plantar creases
- Delayed skeletal maturation
- Epicanthus
- Intellectual disability, mild
- Macrocephaly
- Narrow chest
- Osteoporosis
- Ovoid vertebral bodies
- Patent ductus arteriosus
- Platyspondyly
- Prominent supraorbital ridges
- Short distal phalanx of finger
- Short hallux
- Short neck
- Skeletal dysplasia
- Umbilical hernia
- Wide nasal bridge
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.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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