Which are the symptoms of Kenny-Caffey Syndrome?

Kenny-Caffey Syndrome (KCS), also known as Kenny-Caffey Syndrome Type 1, is a rare genetic disorder that primarily affects bone development and growth. It is characterized by a variety of physical and developmental abnormalities, which can vary in severity from person to person.

Physical Symptoms:

• Short stature: Individuals with KCS often have significantly shorter stature than average for their age group. This growth retardation is usually evident from early childhood.


• Small hands and feet: Affected individuals may have abnormally small hands and feet, which can be disproportionate to their overall body size.


• Hypocalcemia: Many individuals with KCS experience low levels of calcium in their blood, leading to symptoms such as muscle cramps, twitching, and numbness or tingling sensations.


• Dental abnormalities: Dental problems are common in KCS, including delayed eruption of teeth, small teeth, and abnormal tooth enamel.


• Characteristic facial features: Some individuals may exhibit distinctive facial features, such as a small jaw, a prominent forehead, and widely spaced eyes.


• Hypoparathyroidism: This condition, characterized by insufficient production of parathyroid hormone, is often present in individuals with KCS. It can lead to low levels of calcium and high levels of phosphorus in the blood.


• Thin long bones: X-rays may reveal thinning of the long bones in the arms and legs, which can contribute to the short stature observed in KCS.

Developmental Symptoms:

• Intellectual disability: Some individuals with KCS may have mild to moderate intellectual disability, while others have normal intelligence.


• Delayed development: Children with KCS may experience delays in reaching developmental milestones, such as sitting, crawling, and walking.


• Speech and language difficulties: Communication challenges, including speech delay and language impairments, are common in individuals with KCS.


• Behavioral issues: Some individuals may exhibit behavioral problems, such as hyperactivity, attention deficits, and difficulties with social interactions.

Other Symptoms:

• Hypothyroidism: In some cases, individuals with KCS may have an underactive thyroid gland, leading to symptoms such as fatigue, weight gain, and cold intolerance.


• Hearing loss: Sensorineural hearing loss, which affects the inner ear, can occur in some individuals with KCS.


• Seizures: While not as common, seizures have been reported in a small number of individuals with KCS.

It is important to note that the symptoms and their severity can vary widely among individuals with Kenny-Caffey Syndrome. Some individuals may only exhibit a few of the symptoms mentioned above, while others may experience a broader range of manifestations. Additionally, the age of onset and progression of symptoms can also differ.