Rare Pediatrics News
Disease Profile
Cantu syndrome
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
Q78.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hypertrichotic osteochondrodysplasia; Craniofaciocardioskeletal syndrome
Categories
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1517
Definition
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Epidemiology
To date, fewer than 30 cases have been reported.
Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia. Affected individuals have hypertrichosis with thick scalp hair extending onto the forehead and generalized increased body hair. Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals. Mild intellectual deficiency has been described in several patients.
Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Coxa valga | 0002673 | |
| Curly eyelashes | 0007665 | |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
| Long philtrum | 0000343 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
| Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
| 30%-79% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 |
| Broad ribs |
Wide ribs
|
0000885 |
| Cuboid-shaped vertebral bodies | 0004634 | |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| 0000939 | ||
| Ovoid vertebral bodies | 0003300 | |
| Patent ductus arteriosus | 0001643 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short hallux |
Short big toe
|
0010109 |
| Short neck |
Decreased length of neck
|
0000470 |
| Skeletal dysplasia | 0002652 | |
| Umbilical hernia | 0001537 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
| 5%-29% of people have these symptoms | ||
| Abnormal heart valve morphology | 0001654 | |
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
| Finger |
0006101 | |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Broad first metatarsal |
Wide 1st long bone of foot
|
0010068 |
| Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
| 0005129 | ||
| Congenital, generalized hypertrichosis | 0004540 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
| Enlarged posterior fossa | 0005445 | |
| Erlenmeyer flask deformity of the femurs |
Erlenmeyer flask shaped thighbone
|
0004975 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Hypoplastic ischiopubic rami | 0008822 | |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ] |
0001520 |
| Large sella turcica |
Big sella turcica
|
0002690 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Pericardial effusion |
Fluid around heart
|
0001698 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
| Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
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