Kenny-Caffey Syndrome: Signs, Causes and Complications

Children's bone growth and development are impacted by the uncommon genetic condition known as Kenny-Caffey syndrome. Short stature and anomalies in bone density might result from this disorder.

What is Kenny-Caffey Syndrome?

The disease is brought on by mutations in particular genes involved in calcium control & bone formation. The hallmarks of Kenny-Caffey syndrome are caused by these genetic alterations that interfere with the regular mechanisms involved in bone formation.

Researchers are still working to understand the underlying causes of the syndrome better, even if the precise method by which these mutations cause it is still unclear.

It is essential to comprehend the genetic foundation of Kenny-Caffey syndrome to develop viable therapies and enhance care for those who suffer from this uncommon condition.

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What are the Symptoms of Kenny-Caffey Syndrome?

May experience developmental delays, intellectual disabilities, and dental problems.

Short stature: Those who are affected tend to be shorter than usual.
Hypocalcemia: One of the main characteristics of the illness is hypocalcemia or low blood calcium levels.
Intellectual disability: Cognitive development and functioning may be impacted by intellectual disability.
Thickened long bones: Long bones that are thicker, particularly in the shafts.
Facial abnormalities: A tiny jaw or a prominent forehead are examples of facial deformities.

What are the Causes of Kenny-Caffey Syndrome?

Sometimes, the syndrome can be inherited in an autosomal recessive or autosomal dominant pattern.

Genetic alterations: FAM111A or TBCE gene mutations are frequent reasons.
Unplanned mutations: may happen when the embryo is developing.
Consanguinity: Closely related Parents may be at greater risk.
Environmental factors: Pregnancy-related exposures may play a role.
Autosomal recessive inheritance: In rare instances, autosomal recessive inheritance is inherited from carrier parents.

What are the Different Types of Kenny-Caffey Syndrome?

Kenny-Caffey Syndrome Type 1

Autosomal recessive inheritance.
Symptoms appear in infancy.
Growth retardation, small hands and feet, and hypocalcemia.
Hormone imbalances and intellectual impairment are present.
Skeletal anomalies include short stature and swollen long bones.
Early diagnosis and management improve outcomes.

Kenny-Caffey Syndrome Type 2

Autosomal dominant inheritance.
Symptoms appear in early childhood.
Similar skeletal features as Type 1, with possible unique facial characteristics.
No hormone imbalances or intellectual impairment.
Skeletal anomalies include short stature and swollen long bones.
Early diagnosis and management improve quality of life.

What are the Risk Factors of Kenny-Caffey syndrome?

The risk factors for this condition include a family history of the syndrome, as it is inherited in an autosomal recessive pattern.

Since Kenny-Caffey syndrome is hereditary, families with a history of the condition are more likely to be affected.
The condition is associated with genetic mutations in the FAM111A or TBCE genes.
The risk is increased by kinship or closely related parents.
One risk factor during pregnancy is intrauterine growth restriction (IUGR).
Low birth weight and premature birth increase the risk of the condition.
Radiation and toxin exposure are two examples of environmental elements that may be involved.
Early diagnosis and identification aid in symptom management and appropriate treatment.

What are the Complications of Kenny-Caffey Syndrome?

Growth retardation leading to short stature
Thickening of long bones with narrow bone marrow cavities
Recurrent hypocalcemia (low calcium levels) causing muscle cramps and seizures
Delayed closure of skull bones (fontanelles)
Intellectual disability, in some cases
Eye abnormalities, including optic atrophy
Dental issues such as delayed tooth eruption
Weakened immune system leading to frequent infections

How is Kenny-Caffey syndrome diagnosed?

In order to evaluate growth patterns, bone anomalies, and other symptoms typical of the illness, the approach usually starts with a comprehensive physical examination.

A physical examination to evaluate development trends and skeletal anomalies is the first step in the diagnosis process.
Bone scans or X-rays can identify delayed bone ageing and thicker bones.
Mutations in the TBCE or FAM111A genes are detected via genetic testing.
Blood tests look for associated conditions such as hypocalcemia by measuring hormone, calcium, and phosphorus levels.
Facial features and other symptoms are evaluated as part of the clinical evaluation.
Specialists in medical genetics may help to validate the diagnosis and direct treatment.

How Can Kenny-Caffey Syndrome Be Prevented?

Genetic counselling can assist in determining the risk for subsequent generations because Kenny-Caffey Syndrome is a genetic disorder.
Frequent health examinations can aid in the early identification and treatment of issues.
Keeping up adequate calcium and nutrition intake may assist control the condition's symptoms.
Timely interventions can be facilitated by tracking the growth and development of children with the syndrome.
seeking advice from a medical expert for recommendations on individualized care and treatment.

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How is Kenny-Caffey Syndrome Treated?

The goal of treatment is to control Kenny-Caffey syndrome symptoms and complications.
If growth and development are impacted by hormone deficiencies, hormone therapy may be required.
Calcium and vitamin D supplements help support bone health and prevent complications.
Regular monitoring is essential to track growth, bone health, and overall well-being.
Orthopaedic procedures may be required to manage severe skeletal abnormalities.
Physical therapy can improve muscle strength, coordination, and mobility.
Genetic counselling guides affected individuals and their families.
A multidisciplinary healthcare team helps create a personalized treatment plan.

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Frequently Asked Questions

Kenny-Caffey syndrome can be identified through signs like short stature, low calcium levels, and thickened bones. It may also include symptoms like delayed growth and recurrent muscle spasms.

Avoid activities that can cause injury to bones; follow doctor's advice for medication and treatment; provide a safe environment. Ensure regular medical check-ups to monitor growth and overall health. Maintain a balanced diet to support bone strength and overall well-being.

Kenny-Caffey syndrome can lead to short stature, intellectual disability, and dental problems in the long term. It may also cause recurrent infections and hormonal imbalances affecting overall growth.

Treatment for Kenny-Caffey syndrome focuses on managing symptoms like calcium and hormone levels with medications and may include surgery for bone. Regular monitoring and supportive care help manage complications effectively.

Recurrence of Kenny-Caffey syndrome after treatment is rare but possible. Regular follow-up exams can help monitor for any signs of recurrence And ensure timely management of emerging symptoms.