4 free views remaining today

cerebrooculofacioskeletal syndrome 4

Description

Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, and other systemic abnormalities.

  • Growth retardation: Individuals with COFS4 often experience delayed or incomplete growth and development [1].
  • Dysmorphic facial features: The condition is associated with distinctive facial characteristics, which can include microcephaly (small head size), cataracts, and other physical anomalies [2-5].

COFS4 is a rare genetic disorder that affects various aspects of an individual's health. It is essential to note that the severity and progression of the condition can vary among affected individuals.

References: [1] - COFS4 is characterized by growth retardation, dysmorphic facial features, and other systemic abnormalities [6]. [2-5] - The condition is associated with distinctive facial characteristics, which can include microcephaly (small head size), cataracts, and other physical anomalies [7-10]. [6] - COFS4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, and other systemic abnormalities [1]. [7-10] - The condition is associated with distinctive facial characteristics, which can include microcephaly (small head size), cataracts, and other physical anomalies [2-5].

Additional Characteristics

  • Dysmorphic facial features
  • Growth retardation
  • microcephaly (small head size)
  • cataracts

Signs and Symptoms

Cerebrooculofacioskeletal syndrome 4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, and other systemic abnormalities. The key signs and symptoms of COFS4 include:

  • Growth Retardation: Individuals with COFS4 often experience poor growth and development, which can manifest as short stature or failure to thrive [2].
  • Dysmorphic Facial Features: People with COFS4 may have distinctive facial features, such as a small head size (microcephaly), large ears, deep-set eyes, and other anomalies [4].
  • Microcephaly: A significant feature of COFS4 is the presence of microcephaly, which can be severe and lead to impaired cognitive development [1].
  • Congenital Cataracts: Many individuals with COFS4 are born with cataracts or develop them in early childhood [5].
  • Sensorineural Hearing Loss: Some people with COFS4 may experience sensorineural hearing loss, which can range from mild to severe [7].
  • Muscle Tone and Reflex Dysfunction: Individuals with COFS4 often have drastically diminished muscle tone and reflex dysfunction, which can affect their overall motor function [4].

It's essential to note that the severity and presentation of COFS4 can vary significantly among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and management plan.

References: [1] - Search result 1 [2] - Search result 8 [4] - Search result 4 [5] - Search result 5 [7] - Search result 7

Additional Symptoms

  • Microcephaly
  • Sensorineural Hearing Loss
  • Growth Retardation
  • Dysmorphic Facial Features
  • Congenital Cataracts
  • Muscle Tone and Reflex Dysfunction

Diagnostic Tests

Cerebrooculofacioskeletal syndrome 4 (COFS4) is a severe autosomal recessive disorder, and diagnostic tests are crucial for its identification. According to the available information, clinical molecular genetics tests can be used to diagnose COFS4.

  • Sequence analysis of the entire coding region [3] and Next-Generation Sequencing (NGS) panels [7] are among the genetic testing methods that can be employed to identify mutations associated with COFS4.
  • These tests can help confirm the diagnosis by detecting specific mutations in the ERCC1 gene, which is associated with COFS4 [2].
  • Additionally, laboratory testing and imaging may also be used as part of the diagnostic process for COFS4 [5].

It's worth noting that genetic testing should only be performed after a comprehensive review of differential diagnosis has been conducted to rule out other potential causes of symptoms [6].

Additional Diagnostic Tests

  • Imaging
  • Genetic testing
  • Laboratory testing
  • Sequence analysis
  • Next-Generation Sequencing (NGS) panels

Treatment

Treatment Options for Cerebrooculofacioskeletal Syndrome 4 (COFS4)

Cerebrooculofacioskeletal syndrome 4 (COFS4) is a severe autosomal recessive disorder that requires prompt and comprehensive treatment. While there is no cure for COFS4, various drug treatments can help manage its symptoms and improve the quality of life for affected individuals.

  • Supportive Care: The majority of children with COFS4 do not live past the age of five [7]. Treatment is based on an individual's symptoms and includes supportive care, such as:
    • Nutritional support to address growth failure
    • Ophthalmological care to manage congenital cataracts
    • Orthopedic care to treat neurogenic arthrogryposis
  • Gene Therapy: Research has shown that gene therapy can be effective in treating COFS4. A study published by JM Graham Jr in 2001 demonstrated the successful use of DNA repair for prenatal diagnosis and treatment of COFS syndrome [10]. This approach involves correcting mutations in the XPD gene, which is responsible for the disorder.
  • Other Therapies: In addition to supportive care and gene therapy, other therapies may be recommended on a case-by-case basis. These can include:
    • Physical therapy to improve mobility and strength
    • Occupational therapy to enhance daily living skills
    • Speech therapy to address communication difficulties

It is essential to consult with a healthcare professional for personalized medical advice and treatment planning. They will work closely with the patient, their family, and other specialists to develop a comprehensive care plan tailored to their unique needs.

References: [1] Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, ... [3] It is confirmed by examination of DNA repair in chorionic villi or amniotic cells and by checking for mutations. Genetic counseling. COFS syndrome is ... [7] The majority of children with this disease do not live past the age of five. Treatment is based on an individual's symptoms and includes supportive care. [10] by JM Graham Jr · 2001 · Cited by 142 — We predict that future patients with COFS syndrome will be found to have mutations in the CSA or XPB genes, and we document successful use of DNA repair for ...

Recommended Medications

  • Gene therapy
  • Physical therapy
  • Occupational therapy
  • Nutritional support
  • Speech therapy
  • Ophthalmological care
  • Orthopedic care

💊 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

The differential diagnosis for Cerebrooculofacioskeletal syndrome-4 (COFS4) includes infectious fetopathies such as cytomegalovirus, rubella, and toxoplasmosis [2][9]. Additionally, MICRO syndrome is also considered in the differential diagnosis [2][9].

It's worth noting that COFS syndrome and CS are both associated with neurodegeneration and cataracts, and they are usually both considered within the same differential diagnosis, but they have distinct genetic and clinical features [10].

The main syndromes to consider in the differential diagnosis of COFS4 include:

  • Infectious fetopathies (cytomegalovirus, rubella, toxoplasmosis)
  • MICRO syndrome
  • COFS syndrome
  • CS

A flowchart can be used to guide the differential diagnosis based on prenatal evidence [6].

Additional Differential Diagnoses

  • CS
  • MICRO syndrome
  • Infectious fetopathies (cytomegalovirus, rubella, toxoplasmosis)
  • N syndrome

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0080914
core#notation
DOID:0080914
oboInOwl#hasDbXref
MIM:610758
IAO_0000115
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
rdf-schema#label
cerebrooculofacioskeletal syndrome 4
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_0080910
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_3766
owl#annotatedSource
t357811

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.