Kenny-Caffey syndrome type 2

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by a range of physical and skeletal abnormalities.

Physical Characteristics:

• Short stature: Individuals with KCS2 are typically shorter than average, with some cases reported to be significantly below the normal height range.
• Hypermetropia: Some individuals may experience hypermetropia (farsightedness) due to abnormal eye development.
• Microphthalmia: In rare cases, individuals with KCS2 may have microphthalmia, a condition where one or both eyes are abnormally small.

Skeletal Abnormalities:

• Thickening of the long bones: Individuals with KCS2 often experience thickening of their long bones, which can lead to skeletal deformities.
• Medullary stenosis: The medulla, a cavity within the bone responsible for producing blood cells, is often narrowed or absent in individuals with KCS2.

Other Characteristics:

• Delayed closure of the anterior fontanel: In some cases, the front part of the skull may take longer to close than usual.
• Eye abnormalities: Individuals with KCS2 may experience a range of eye problems, including strabismus (crossed eyes) and other visual impairments.

Genetic Basis:

Kenny-Caffey syndrome type 2 is caused by a heterozygous mutation in the FAM111A gene on chromosome 11q12. This genetic mutation leads to the development of KCS2, which is inherited in an autosomal dominant pattern.

References:

• [1] Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. [1]
• [3] Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. [3]
• [13] Autosomal dominant Kenny-Caffey syndrome (Kenny-Caffey syndrome type 2) is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. [13]

Kenny-Caffey syndrome type 2 (KCS2) is a rare hereditary skeletal disorder characterized by various physical abnormalities. The signs and symptoms of KCS2 are present at birth and can be severe.

Physical Abnormalities:

• Thickening of the long bones
• Thin marrow cavities in the bones (medullary stenosis)
• Abnormalities affecting the head and eyes

Common Signs and Symptoms:

• Short stature, with adult height often ranging from 48 to 59 inches [2]
• Low birth weight may be one of the first symptoms [1]
• Premature ossification of the fontanels (soft spots turn bony too soon) [10]
• Delayed anterior fontanelle closure
• Hypocalcemia due to congenital hypoparathyroidism
• Facial dysmorphism, including:
  • Prominent forehead
  • Microphthalmia (small eyes)
  • Micrognathia (small jaw)

Other Symptoms:

• Recurrent episodes of low blood calcium (hypocalcemia) [5]
• Hypokalemia, hypocalcemia, and hypomagnesemia (multiple electrolyte disturbances) [8]

It's essential to note that the severity and presentation of KCS2 can vary among individuals. If you or someone you know is suspected to have KCS2, it's crucial to consult with a medical professional for proper diagnosis and treatment.

References: [1] - Search result 2 [2] - Search result 2 [5] - Search result 5 [8] - Search result 8 [10] - Search result 10

Kenny-Caffey syndrome type 2 (KCS2) can be diagnosed through a combination of clinical evaluation, radiographic findings, and genetic testing.

• Clinical Evaluation: A thorough medical history and physical examination are essential in diagnosing KCS2. The condition is characterized by severe proportionate short stature, cortical thickening, and medullary stenosis of the tubular bones [9].
• Radiographic Findings: Radiographs (X-rays) of the long bones can show characteristic features such as cortical thickening and thin marrow cavities [1]. These findings are often evident in the first few years of life.
• Genetic Testing: Molecular testing with gene panel or Whole-Exome Sequencing (WES) is essential to make a definitive diagnosis of KCS2 [10]. This can identify mutations in the TCOF1 gene, which is associated with this condition.

It's worth noting that treatment of Kenny-Caffey syndrome type 2 is only supportive and aimed at managing the symptoms. There is no cure for this condition.

References: [1] - Context result 1 [9] - Context result 9 [10] - Context result 10

Treatment Options for Kenny-Caffey Syndrome Type 2

Kenny-Caffey Syndrome Type 2 (KCS2) is a rare hereditary skeletal disorder characterized by medullary stenosis and craniocular abnormalities. While there is no cure for KCS2, various treatments can help manage its symptoms.

• Vitamin D and Calcium Supplements: Vitamin D and calcium supplements are often prescribed to treat the hypocalcemia (low calcium levels) associated with KCS2 [9]. These supplements can help restore normal calcium levels in the blood.
• Iron Supplements: Iron supplements may also be recommended, as some individuals with KCS2 may experience iron deficiency anemia [9].
• Antiepileptic Drugs: In cases where seizures are a symptom of KCS2, antiepileptic drugs such as Levetiracetam, Midazolam, Phenobarbital, and carbamazepine can be prescribed to control seizure activity [6][7].
• Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): NSAIDs may also be used to treat symptoms of KCS2, although their effectiveness is not well established [3].

It's essential to note that treatment for KCS2 is primarily symptomatic, and the goal is to manage the condition rather than cure it. Regular laboratory tests are crucial to monitor calcium levels and adjust treatment plans accordingly [10].

Kenny-Caffey syndrome type 2 (KCS2) is a rare genetic disorder characterized by proportionate short stature, skeletal deformities, and multiple electrolyte disturbances. When considering differential diagnoses for KCS2, several conditions should be taken into account.

• Osteochondrodysplasias with osteopetrosis: Conditions such as autosomal recessive osteopetrosis, pycnodysostosis, and other rare bone disorders can present with similar skeletal features to KCS2. These conditions often involve abnormalities in bone density or structure.
• Autoimmune polyendocrine syndrome type 1 (APECED): This rare autoimmune disorder can cause hypoparathyroidism, which is a key feature of KCS2. APECED can also lead to other endocrine disorders and electrolyte imbalances.
• Familial isolated hypoparathyroidism: This genetic condition causes hypoparathyroidism, which can be associated with short stature and skeletal abnormalities similar to those seen in KCS2.

It's essential to note that differential diagnostics for KCS2 should also consider other rare bone disorders, such as osteogenesis imperfecta or cleidocranial dysplasia. A comprehensive evaluation of the patient's clinical presentation, family history, and laboratory findings is necessary to accurately diagnose KCS2 and distinguish it from these related conditions.

References:

• [3] by C Yerawar · 2021 · Cited by 12 — It is characterized by proportionate short stature along with hypoparathyroidism, cortical thickening, medullary stenosis of tubular long bones, ...
• [8] by D Kaleta · 2020 · Cited by 3 — Differential diagnostics should include osteochondro- dysplasias with osteopetrosis like autosomal recessive osteopetrosis, pycnodysostosis, ...
• [7] by N Yuan · 2023 · Cited by 1 — Nonoperative causes include (1) autoimmunity: Autoimmune polyendocrine syndrome type 1; and (2) genetic disorders: Familial isolated ...