Rare Hematology 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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.
orphanet

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.

Clinical description
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.

Etiology
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
Intellectual disability, mild
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
Osteoporosis
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 syndactyly
0006101
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
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
Congenital hypertrophy of left ventricle
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

Organizations

Support 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 more

    These 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

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Cantu syndrome. Click on the link to view a sample search on this topic.

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