What are the other Names for this Condition? (Also known as/Synonyms)

• Cantu Sanchez-Corona Garcia-Cruz Syndrome
• Cranio-Facio-Cardio-Skeletal Syndrome
• Hypertrichotic Osteochondrodysplasia Syndrome

What is Cantu Syndrome? (Definition/Background Information)

• Cantu Syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism
• Most cases of Cantu Syndrome appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, 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

(Source: Cantu Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Cantu Syndrome? (Age and Sex Distribution)

• Cantu Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Less than 30 cases of Cantu Syndrome have been reported in the scientific literature 
• Both males and females may be affected 
• Worldwide, individuals of all racial and ethnic groups may be affected 

What are the Risk Factors for Cantu Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Cantu Syndrome may run in families 
• Currently, no other risk factors have been clearly identified for the syndrome 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Cantu Syndrome? (Etiology)

• Most cases of Cantu Syndrome appear to be sporadic
• But, a few familial cases with predominantly autosomal dominant inheritance, have been reported

(Source: Cantu Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correct function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Cantu Syndrome?

The signs and symptoms of Cantu Syndrome may vary among affected individuals, and may include the following:

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of the metaphysis (abnormality of the wide portion of a long bone)
• Cardiomegaly (enlarged heart)
• Coarse facial features
• Coxa valga
• Curly eyelashes
• Generalized hirsutism
• Long eyelashes
• Long philtrum
• Low anterior hairline
• Low posterior hairline
• Thick eyebrow
• Thick vermilion border (full lips)
• Wide mouth

Frequently present symptoms in 30-79% of the cases:

• Anteverted nares (upturned nasal tip)
• Broad hallux phalanx (broad bone of big toe)
• 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 (flattened vertebrae)
• Prominent supraorbital ridges
• Short distal phalanx of finger
• Short hallux (short big toe)
• Short neck
• Skeletal dysplasia
• Umbilical hernia
• Wide nasal bridge

Occasionally present symptoms in 5-29% of the cases:

• Abnormality of the heart valves
• Accelerated skeletal maturation
• Fingersyndactyly
• Hypertrophiccardiomyopathy

The following additional signs and symptoms may be present in some affected individuals:

• Bicuspid aortic valve
• Broad first metatarsal
• Broad hallux (broad big toe)
• Congenitalhypertrophy of left ventricle
• Congenital, generalized hypertrichosis
• Erlenmeyer flask deformity of the femurs
• Hypoplastic ischiopubic rami
• Being large for gestational age (Birth weight > 90th percentile)
• Large sella turcica
• Lymphedema
• Metaphyseal widening (broad wide portion of long bone)
• Pericardial effusion
• Prominent forehead
• Thick lower and/or upper lip vermilion
• Widened posterior fossa

(Source: Cantu Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Cantu Syndrome Diagnosed?

Cantu Syndromeis diagnosed on the basis of the following information: 

• Complete physical examination 
• Thorough medical history evaluation 
• Assessment of signs and symptoms 
• Laboratory tests 
• Imaging studies 
• Biopsy studies, if necessary 

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cantu Syndrome?

The complications of Cantu Syndrome may include: 

• Low self-esteem, due to one’s appearance
• Depression 
• Problems with heart function, which may lead to cardiac arrest

Complications may occur with or without treatment, and in some cases, due to treatment also. 

How is Cantu Syndrome Treated?

Presently, there is no cure for Cantu Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Cantu Syndrome be Prevented?

Currently, Cantu Syndrome may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorder
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Cantu Syndrome? (Outcomes/Resolutions)

• The prognosis of Cantu Sanchez-Corona Garcia-Cruz Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have a better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis 

Additional and Relevant Useful Information for Cantu Syndrome:

Cantu Syndrome is also known by the following additional name: 

• Craniofaciocardioskeletal Syndrome
• Hypertrichotic Osteochondrodysplasia, Cantu type