Kenny-Caffey syndrome

Kenny-Caffey Syndrome: A Rare Genetic Disorder

Kenny-Caffey syndrome (KCS) is a rare and inherited genetic disorder characterized by several distinct features. The condition affects the development of bones, leading to abnormalities in their structure and function.

• Short Stature: Individuals with KCS are born with short stature, which can range from mild to severe proportionate shortness.
• Skeletal Abnormalities: The long bones in the body become thickened, while the marrow cavities within them (medullary stenosis) become narrow. This can lead to a range of skeletal problems, including cortical thickening and medullary stenosis.
• Hypoparathyroidism: KCS is often associated with hypoparathyroidism, a condition where the parathyroid glands do not produce enough calcium-regulating hormone (parathyroid hormone). This can lead to low calcium levels in the blood (hypocalcemia).
• Craniofacial Anomalies: Individuals with KCS may also experience craniofacial anomalies, including abnormalities in the shape and size of the skull.
• Normal Intelligence: Despite these physical abnormalities, individuals with KCS typically have normal intelligence.

References:

• [1] The signs of the disease are present at birth. Other features include short stature, hypocalcemia, hypoparathyroidism, and normal intelligence. The onset of ... (Source: #6)
• [2] Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, ... (Source: #3)
• [3] Kenny–Caffey syndrome (KCS) is an inherited disorder that is characterized by short stature, hypoparathyroidism, and skeletal defects that include cortical ... (Source: #5)
• [4] The signs of the disease are present at birth. Other features include short stature, hypocalcemia, hypoparathyroidism, and normal intelligence. The onset of ... (Source: #6)

Kenny-Caffey syndrome, also known as KCS2, is characterized by several distinct signs and symptoms.

Primary Outcome The primary outcome of KCS2 is short stature [1]. Individuals with the condition often have a lower birth weight, which can be one of the first symptoms present at birth [2].

Other Features In addition to short stature, individuals with KCS2 may also experience:

• Hypocalcemia (low calcium levels in the blood)
• Hypoparathyroidism (underactive parathyroid glands)
• Normal intelligence
• Dysmorphic features (abnormal physical characteristics)

These symptoms are often present at birth and can be a result of prenatal growth retardation [7]. The condition is also characterized by cortical thickening and medullary stenosis of the tubular bones, which can lead to short stature and other skeletal abnormalities [9].

Clinical Signs and Symptoms The signs of KCS2 are typically present at birth and include:

• Short stature
• Hypocalcemia
• Hypoparathyroidism
• Normal intelligence

These symptoms can be a result of the condition's impact on bone growth and development, leading to short stature and other skeletal abnormalities [3][4].

References

[1] Most cases are obvious at birth (congenital). The primary outcome of KCS2 is short stature. Intelligence is usually normal. Individuals with KCS may also have ... (Search Result 1)

[2] Signs and Symptoms​​ Kenny-Caffey syndrome type 2 is often congenital (present at birth), as low birth weight is one of the first symptoms. Individuals with the ... (Search Result 2)

[3] The signs of the disease are present at birth. Other features include short stature, hypocalcemia, hypoparathyroidism, and normal intelligence. The onset of ... (Search Result 3)

[4] The signs of the disease are present at birth. Other features include short stature, hypocalcemia, hypoparathyroidism, and normal intelligence. The onset of ... (Search Result 4)

[7] A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the ... (Search Result 7)

[9] ▽ Description ... Kenny-Caffey syndrome (KCS) is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular ... (Search Result 9)

Kenny-Caffey syndrome is a rare genetic disorder characterized by proportionate short stature, cortical thickening and medullary stenosis of the bones, among other clinical features.

Diagnostic tests for Kenny-Caffey syndrome:

• Genetic analysis to provide a molecular diagnosis of this disorder [6][7]
  • Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis
• Exome-based NextGen sequencing with CNV analysis is the favored testing approach [10]
  • This allows cost-effective reflexing to PGxome or other exome-based sequencing tests
• Diagnostic tests, including genetic analysis, are available in laboratories around the world [8]

Clinical features and differential diagnosis:

• Kenny-Caffey syndrome can be distinguished from similar phenotypes by analyzing two genes simultaneously [4]
  • This test aids in a differential diagnosis of similar conditions

Recommended for individuals with:

• A personal history of Kenny-Caffey syndrome
• A family history of this disorder to ensure accurate diagnosis and molecular confirmation [6][7]

Note that diagnostic tests may vary depending on the individual case, and it's essential to consult with a medical professional for personalized advice.

References: [4] - Clinical Features. Kenny-Caffey syndrome. [6] - Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis. [7] - Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis. [8] - Diagnostic tests, including genetic analysis, are available in laboratories around the world. [10] - Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based sequencing tests.

Treatment Options for Kenny-Caffey Syndrome

Kenny-Caffey syndrome, also known as Kenny-Caffey syndrome type 1 or KCS1, is a rare hereditary skeletal disorder. While there is no specific treatment that can cure the condition, various management strategies and treatments have been reported in medical literature.

Vitamin D, Calcium, and Iron Supplements

According to search result [4], Vitamin D, calcium, and iron supplements are used as part of the treatment regimen for Kenny-Caffey syndrome type 2 (KCS2). This is achieved through oral administration of calcium carbonate and calcitriol. The goal of this treatment is to maintain normocalcaemia in affected individuals.

Calcium Gluconate and Calcitriol

Search result [6] mentions the use of IV calcium gluconate followed by oral calcium carbonate 100mg BD and calcitriol 0.1mcg BD for the first 2 years of life to achieve normocalcaemia in a patient with Kenny-Caffey syndrome.

Hydroxyurea Treatment

Research on FAM111A-depleted cells has shown that hydroxyurea treatment can reduce single-stranded DNA formation and improve survival rates [10]. However, it is essential to note that this information is related to the molecular mechanisms underlying Kenny-Caffey syndrome rather than a direct treatment for the condition.

Consultation with Healthcare Professionals

It is crucial to consult with healthcare professionals for medical advice and treatment regarding Kenny-Caffey syndrome. They can provide personalized guidance based on individual circumstances [7].

In summary, while there is no specific treatment that can cure Kenny-Caffey syndrome, various management strategies and treatments have been reported in medical literature. These include Vitamin D, calcium, and iron supplements, as well as the use of IV calcium gluconate and calcitriol.

References:

[4] Type 2: Caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. [6] by M Abraham · 2015 · Cited by 3 — Normocalcaemia was achieved with IV calcium gluconate and maintained by oral calcium carbonate 100mg BD and calcitriol 0.1mcg BD for the first 2 years of life ... [10] Upon hydroxyurea treatment, FAM111A-depleted cells exhibit reduced single-stranded DNA formation and a better survival rate. [7] by H Schigt · 2023 · Cited by 7 — We clinically and genetically analyzed 10 KCS2 patients from 7 families.

Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by short stature, hypoparathyroidism, and skeletal defects. When considering the differential diagnosis for KCS, several conditions should be taken into account.

• Di-George syndrome: This condition shares similarities with KCS in terms of its effects on parathyroid function and calcium levels [1][3].
• Transient hypoparathyrodism of infancy: This condition is characterized by low parathyroid hormone levels, similar to KCS [1].
• Kenny-Caffey syndrome type 2 (KCS2): Although a distinct subtype of KCS, KCS2 also presents with skeletal abnormalities and short stature [2][8].

It's essential to note that the differential diagnosis for infantile cortical hyperostosis (Caffey disease) includes osteomyelitis due to its urgent treatment requirements [4]. However, this condition is not directly related to the primary characteristics of KCS.

In addition, hypocalcemia should be considered in the differential diagnosis of postoperative seizures or tetany, and glaucoma patients should avoid eye compression to prevent complications [10].

References: [1] - Context result 1 [2] - Context result 8 [3] - Context result 3 [4] - Context result 4 [8] - Context result 8 [10] - Context result 10