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Kenny-Caffey syndrome type 1
Description
Kenny-Caffey Syndrome Type 1 (KCS1)
Kenny-Caffey syndrome type 1, also known as Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome or Sanjad-Sakati Syndrome, is a rare hereditary skeletal disorder. It is characterized by:
- Short stature: Individuals with KCS1 typically have short stature, which can be severe in some cases.
- Osteosclerosis: The long bones are affected, resulting in thickening and hardening of the bone tissue (osteosclerosis).
- Medullary stenosis: The marrow cavities within the long bones are narrowed or absent, leading to impaired blood cell production.
This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop KCS1. It is essential to note that KCS1 is distinct from Kenny-Caffey syndrome type 2 (KCS2), which has different characteristics.
References:
- [3] Kenny-Caffey syndrome type 1 (KCS1) is an autosomal recessive bone dysplasia characterized by short stature, osteosclerosis with medullary stenosis of the long bones.
- [4] An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and other systemic features.
Additional Characteristics
- Short stature
- Osteosclerosis (thickening and hardening of the bone tissue)
- Medullary stenosis (narrowed or absent marrow cavities within the long bones)
Signs and Symptoms
Kenny-Caffey syndrome type 1 (KCS1) is a rare bone dysplasia characterized by several distinct signs and symptoms.
Short stature: Individuals with KCS1 typically experience short stature, which can be evident at birth or become apparent in early childhood [4]. This is often one of the primary outcomes of the condition.
Osteosclerosis with medullary stenosis: KCS1 is also marked by osteosclerosis (hardening of the bones) and medullary stenosis (narrowing of the bone marrow cavities), particularly in the long bones [4].
Other symptoms may include:
- Postnatal growth retardation: Individuals with KCS1 often experience delayed or impaired postnatal growth, contributing to their short stature [5].
- Craniofacial anomalies: Some individuals with KCS1 may exhibit craniofacial abnormalities, such as a prominent forehead, midface hypoplasia, and small palpebral fissures [8].
It's essential to note that the signs and symptoms of KCS1 can vary in severity and presentation among affected individuals.
Additional Symptoms
- Craniofacial anomalies
- Osteosclerosis with medullary stenosis
- Postnatal growth retardation
- short stature
Diagnostic Tests
Kenny-Caffey Syndrome Type 1 (KCS1) is a rare autosomal recessive bone dysplasia characterized by short stature, osteosclerosis with medullary stenosis of the long bones, and other skeletal abnormalities. Diagnostic tests for KCS1 are crucial in confirming the diagnosis and ruling out other conditions.
Clinical Molecular Genetics Test: This test is recommended for individuals suspected to have KCS1, particularly those with a personal and/or family history of this disorder (Source: [4]). The test involves Sequence analysis of the entire coding region, Next-Generation Sequencing, or other advanced genetic testing methods to identify mutations in the TBCE gene.
Hormonal Tests: Hormonal tests may be conducted to rule out hypoparathyroidism with hypocalcemia, a common feature of KCS1 (Source: [3]). These tests can help determine if there are any abnormalities in calcium and parathyroid hormone levels.
Celiac Disease Screening: Celiac disease screening is also recommended for individuals suspected to have KCS1, as some cases may present with celiac disease symptoms (Source: [3]).
Genetic Analysis: Genetic analysis is essential in providing a molecular diagnosis of this disorder. This test can confirm the presence of mutations in the TBCE gene and help determine the genetic cause of the condition (Source: [4]).
In summary, diagnostic tests for Kenny-Caffey Syndrome Type 1 include:
- Clinical Molecular Genetics Test
- Hormonal Tests to rule out hypoparathyroidism with hypocalcemia
- Celiac Disease Screening
- Genetic Analysis to confirm the molecular diagnosis
These tests can help confirm the diagnosis of KCS1 and provide valuable information for medical professionals to develop an effective treatment plan.
References:
[3] T El Jabbour · 2014 · Cited by 9 — Hormonal tests and celiac disease screening are recommended for individuals suspected to have Kenny-Caffey Syndrome Type 1. [4] Genetic analysis is essential in providing a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis. [6] Kenny-Caffey syndrome type 1 is an autosomal recessive bone dysplasia characterized by short stature, osteosclerosis with medullary stenosis of the long bones, and other skeletal abnormalities.
Additional Diagnostic Tests
- Genetic Analysis
- Clinical Molecular Genetics Test
- Hormonal Tests
- Celiac Disease Screening
Treatment
Treatment Options for Kenny-Caffey Syndrome Type 1
Kenny-Caffey Syndrome Type 1 (KCS1) is a rare hereditary skeletal disorder, and treatment options are limited to palliative therapy and correction of hypocalcemia. According to medical literature [3], therapeutic options for KCS1 patients include:
- Correction of hypocalcemia through administration of calcium supplements
- Palliative therapy to manage symptoms and improve quality of life
It is worth noting that prevention of KCS1 could be achieved through genetic counseling and testing, but this is not a treatment option per se.
Vitamin D Therapy
In some cases, Vitamin D therapy may be recommended to help manage hypocalcemia associated with KCS1 [5]. However, the effectiveness of Vitamin D therapy in treating KCS1 symptoms is unclear.
Other Considerations
It's essential to note that each case of Kenny-Caffey Syndrome Type 1 is unique, and treatment plans should be tailored to individual needs. A multidisciplinary approach involving specialists such as endocrinologists, geneticists, and orthopedic surgeons may be necessary to manage the complex symptoms associated with this condition.
References:
[3] Metwalley KA (2012). Therapeutic options for KCS1 patients are limited to palliative therapy and correction of hypocalcemia.[1]
[5] ... type of signs and symptoms present. • Careful ... therapy with 1,25(OH)2D analogues.
Note: The numbers in square brackets refer to the search results provided in the context.
Recommended Medications
- Vitamin D therapy
- Calcium
- calcium atom
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Kenny-Caffey syndrome type 1 (KCS1) is a rare autosomal recessive bone dysplasia characterized by short stature, osteosclerosis with medullary stenosis of the long bones, and other skeletal abnormalities. In addition to KCS1, there are several other conditions that can be considered in the differential diagnosis for Kenny-Caffey syndrome type 2 (KCS2) is not relevant here as we are discussing KCS1.
- Sanjad-Sakati syndrome: This is an autosomal recessive disorder characterized by hypoparathyrodism, retardation and short stature. However, it does not present with the same skeletal abnormalities as KCS1 [1].
- Other rare bone dysplasias: There are several other rare bone dysplasias that can be considered in the differential diagnosis for KCS1, including osteogenesis imperfecta, cleidocranial dysplasia, and spondyloepiphyseal dysplasia. However, these conditions typically present with different skeletal abnormalities than those seen in KCS1 [3][4].
It's worth noting that a definitive diagnosis of KCS1 can only be made through genetic testing and radiological examination.
References: [1] by T El Jabbour · 2014 · Cited by 9 — Another differential diagnosis is Sanjad-Sakati syndrome (OMIM 241410) an autosomal recessive disorder characterized by hypoparathyrodism, retardation and ... [3] by KA Metwalley · 2012 · Cited by 6 — DISCUSSION ... Kenny- Caffey syndrome is a rare hereditary skeletal disorder, first reported by Kenny and Linarelli in 1966.[2] Caffey described its radiological ... [4] by H Schigt · 2023 · Cited by 7 — Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7 ...
Additional Differential Diagnoses
- Kenny-Caffey syndrome
- Mononen-Karnes-Senac syndrome
- Other rare bone dysplasias (including osteogenesis imperfecta, cleidocranial dysplasia, and spondyloepiphyseal dysplasia)
- N syndrome
Additional Information
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