4 free views remaining today

Culler-Jones syndrome

Description

Culler-Jones Syndrome: A Rare Genetic Disorder

Culler-Jones syndrome (CJS) is a rare autosomal dominant genetic disorder characterized by several distinct features. The main characteristics of this syndrome include:

  • Hypopituitarism: This refers to the underproduction of hormones by the pituitary gland, which can lead to growth hormone deficiency and other endocrine problems [1][2].
  • Postaxial polydactyly: This is a rare congenital disorder where extra fingers or toes are present on the hands or feet. It is often associated with CJS [3][4].
  • Hypothalamic hamartoma: A non-cancerous tumor that can develop in the hypothalamus, which is a part of the brain that regulates various bodily functions [5].
  • Pituitary dysfunction: This refers to problems with the pituitary gland's ability to produce hormones, leading to issues such as growth hormone deficiency and other endocrine disorders [6].

CJS is caused by mutations in the GLI2 gene located on the long arm of chromosome 12. It is a rare disorder, and its exact prevalence is unknown.

References:

[1] Culler-Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly [1].

[2] One of the main characteristics of Culler-Jones syndrome is hypopituitarism. Regarding prognosis, patients with this condition may experience growth retardation and other endocrine problems [5].

[3] Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder that is associated with CJS [8].

[4] Some patients with Culler-Jones syndrome may present with postaxial polydactyly as one of the primary symptoms [7].

[5] A non-cancerous tumor called a hypothalamic hamartoma can develop in the brain and be associated with CJS [3].

[6] Patients with Culler-Jones syndrome may experience pituitary dysfunction, leading to growth hormone deficiency and other endocrine disorders [4].

Additional Characteristics

  • Hypopituitarism
  • Postaxial polydactyly
  • Hypothalamic hamartoma
  • Pituitary dysfunction

Signs and Symptoms

Culler-Jones Syndrome Signs and Symptoms

Culler-Jones syndrome (CJS) is a rare genetic disorder characterized by several distinct signs and symptoms. The following are the common manifestations associated with this condition:

  • Short stature: Individuals with CJS often experience growth hormone deficiency, leading to short stature [5].
  • Delayed bone age: Delayed bone maturation is another characteristic feature of CJS, which can be attributed to hypopituitarism [1][5].
  • Hypogonadotropic hypogonadism: This condition involves impaired gonadal function, resulting in delayed or absent puberty [1].
  • Midline facial defects: Some individuals with CJS may exhibit midline facial anomalies, such as hypotelorism (eyes that are closer together than usual) or mild midface hypoplasia [1].
  • Postaxial polydactyly: This is a rare congenital anomaly where extra fingers or toes are present on the hands and feet [6][7].
  • Hypopituitarism-related symptoms: Symptoms related to hypopituitarism, such as abdominal pain, decreased appetite, diabetes insipidus, and short stature, may also be observed in individuals with CJS [5].

Additional symptoms

Other symptoms associated with Culler-Jones syndrome include:

  • Language delay: Language development may be delayed due to hearing loss, vision loss, vestibular anomalies, hospitalizations, and illness, or cognitive impairment [9].
  • Micropenis: In males, CJS can cause micropenis, a condition characterized by an abnormally small penis [8].

It is essential to note that not all individuals with Culler-Jones syndrome will exhibit all of these symptoms. The severity and presentation of the condition can vary significantly among affected individuals.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Additional Symptoms

  • Hypogonadotropic hypogonadism
  • Micropenis
  • Postaxial polydactyly
  • Delayed bone age
  • Language delay
  • Midline facial defects
  • Hypopituitarism-related symptoms
  • short stature

Diagnostic Tests

Diagnostic Tests for Culler-Jones Syndrome

Culler-Jones syndrome (CJS) is a rare genetic disorder that can be diagnosed through various tests and examinations.

  • Laboratory Tests: Laboratory tests, such as blood work and urine analysis, may be conducted to rule out other conditions and provide a baseline for further testing.
  • Imaging Studies: Imaging studies, including X-rays, CT scans, and MRI (Magnetic Resonance Imaging), can help identify abnormalities in the brain, pituitary gland, and other organs. Specifically:
    • MRI Examination: An MRI examination may show a small anterior pituitary gland and hypoplastic anterior pituitary and ectopic posterior pituitary lobe [5].
  • Genetic Testing: Genetic testing can confirm the diagnosis of CJS by identifying mutations in the relevant genes. A DNA microarray showed a mutation compatible with Culler-Jones Syndrome [10].

Additional Tests

Other tests may be conducted to rule out other conditions and provide a comprehensive diagnosis. These include:

  • Sequence Analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS) can be used for molecular genetics analysis of the entire coding region [3].
  • Target Population: Specific target populations, such as those with suspected CJS, may undergo additional testing to confirm the diagnosis.

References

[1] The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. [4] [5] Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. [10] A DNA microarray showed a mutation compatible with Culler-Jones Syndrome.

Note: The above information is based on the search results provided in the context block.

Additional Diagnostic Tests

  • Laboratory Tests
  • Imaging Studies
  • Genetic Testing
  • Sequence Analysis

Treatment

Treatment Options for Culler-Jones Syndrome

Culler-Jones syndrome (CJS) is a rare genetic disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The treatment of CJS primarily focuses on addressing the hormonal deficiencies associated with the condition.

  • Hormone Replacement Therapy: Once diagnosed, individualized hormone replacement treatment is required for each patient [1]. This may involve the administration of hormones such as growth hormone, thyroid hormone, and sex hormones to replace those that are lacking due to hypopituitarism [5].
  • Combined HCG and HMG Injection: Combined intramuscular injection of HCG (human chorionic gonadotropin) and HMG (human menopausal gonadotropin) can promote testicular development, testosterone secretion, and spermatogenesis in males with CJS [3].

It is essential to note that the treatment plan for each patient may vary depending on their specific symptoms and hormonal deficiencies. A multidisciplinary approach involving endocrinologists, geneticists, and other specialists may be necessary to provide comprehensive care.

References:

[1] by Y Zhang · 2023 · Cited by 1 — Once diagnosed, individualized hormone replacement treatment is required for each patient. [3] by Y Zhang · 2023 · Cited by 1 — Combined intramuscular injection of HCG and HMG can promote testicular development, testosterone secretion and spermatogenesis, which may ... [5] Nov 16, 2022 — Patients should be treated with the replacement of hormones that are lacking due to hypopituitarism (RareDiseases 2021).

Recommended Medications

  • Hormone Replacement Therapy
  • Combined HCG and HMG Injection

💊 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

Culler-Jones Syndrome (CJS) Differential Diagnosis

Culler-Jones syndrome (CJS) is a rare autosomal dominant disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The differential diagnosis of CJS involves considering other conditions that may present with similar symptoms.

Conditions to Consider:

  • Multiple Pituitary Hormone Deficiency (MPHD): MPHD is a condition characterized by the deficiency of multiple pituitary hormones, which can lead to growth hormone deficiency and hypopituitarism. [7]
  • Postaxial Polydactyly: Postaxial polydactyly is a rare congenital anomaly characterized by extra fingers or toes, which can be associated with CJS. [9]
  • Hypopituitarism: Hypopituitarism refers to the deficiency of one or more pituitary hormones, which can lead to growth hormone deficiency and other symptoms similar to CJS.
  • Growth Hormone Deficiency (GHD): GHD is a condition characterized by the deficiency of growth hormone, which can lead to short stature and delayed bone age. [5]

Key Features to Distinguish CJS from Other Conditions:

  • Autosomal Dominant Inheritance: CJS is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
  • Hypopituitarism and Postaxial Polydactyly: The combination of hypopituitarism and postaxial polydactyly is a distinctive feature of CJS.
  • Genetic Testing: Genetic testing can confirm the diagnosis of CJS by identifying the mutated gene responsible for the condition.

References:

[7] Martín-Rivada Á, et al. (2019). A novel mutation in the Culler-Jones syndrome gene confirms the diagnosis of Culler-Jones syndrome (MIM #615849). [8]

[5] May 2, 2022 - Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature, delayed bone age, diabetes insipidus, ...

Note: The references provided are based on the search results and are used to support the information presented in the answer.

Additional Differential Diagnoses

  • Multiple Pituitary Hormone Deficiency (MPHD)
  • Postaxial Polydactyly
  • Growth Hormone Deficiency (GHD)
  • hypopituitarism

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_2697
owl#annotatedSource
t353368
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0080328
core#notation
DOID:0080328
oboInOwl#hasDbXref
MIM:615849
rdf-schema#label
Culler-Jones syndrome
IAO_0000115
A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.
rdf-schema#subClassOf
t353259
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000147
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.