4 free views remaining today
Borjeson-Forssman-Lehmann syndrome
ICD-10 Codes
Related ICD-10:
Description
Borjeson-Forssman-Lehmann Syndrome (BFLS) Description
Borjeson-Forssman-Lehmann syndrome, also known as BFLS, is a rare genetic disorder characterized by a range of symptoms. The condition is inherited in an X-linked manner, meaning it is caused by mutations on the X chromosome.
Key Features:
- Intellectual Disability: Individuals with BFLS often experience intellectual disability, which can vary in severity.
- Obesity: Truncal obesity, or excessive weight gain around the midsection, is a common feature of the syndrome.
- Seizures: Seizures are another symptom associated with BFLS.
- Hypogonadism: This condition affects the development and function of the reproductive organs, leading to issues such as delayed puberty.
- Developmental Delay: Children with BFLS may experience developmental delays, which can impact their physical, emotional, and cognitive growth.
Additional Characteristics:
- Facial Features: Individuals with BFLS often have characteristic facial features, including long earlobes and a distinctive facial shape.
- Finger and Toe Abnormalities: Tapered fingers and short toes are common in people with this syndrome.
- Growth Defects: Growth defects, such as delayed growth or short stature, can also be present.
References:
- [1] BFLS is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. (Source: 4)
- The most helpful clinical diagnostic features are the long, fleshy earlobes; shortened, abnormal toes; tapered, malleable fingers, gynaecomastia... (Source: 9)
Additional Characteristics
- Seizures
- Intellectual Disability
- Obesity
- Hypogonadism
- Developmental Delay
Signs and Symptoms
Borjeson-Forssman-Lehmann Syndrome (BFLS) Signs and Symptoms
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disorder characterized by a wide range of symptoms. The following are the common signs and symptoms associated with BFLS:
- Intellectual Disability: Individuals with BFLS often experience intellectual disability, which can vary in severity [1][2].
- Obesity: Truncal obesity is a hallmark feature of BFLS, particularly in males [3][4].
- Seizures: Seizures are a common symptom of BFLS, affecting both males and females [5][6].
- Failure to Thrive: Infants with BFLS may experience feeding difficulties and failure to thrive due to hypotonia (low muscle tone) [7][8].
- Distinctive Facial Features: Individuals with BFLS often have distinctive facial features, including a flat face, large ears, and a short nose [9].
Additional Symptoms
In males, additional symptoms may include:
- Hypogonadism: Reduced or absent testicular function can lead to hypogonadism (low sex hormone levels) [10].
- Gynaecomastia: Swelling of the breast tissue in males is a common feature of BFLS [11].
Variability in Symptoms
It's essential to note that the symptoms of BFLS can vary significantly between individuals, even within the same family. The severity and presentation of symptoms may also change over time.
References:
[1] Context 1: May 20, 2015 — Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability...
[2] Context 9: Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual...
[3] Context 2: Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity...
[4] Context 5: Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth defects.
[5] Context 6: May 20, 2015 — Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, obesity, seizures...
[6] Context 4: Sep 19, 2023 — Borjeson-Forssman-Lehman syndrome or BFLS is an X-linked genetic disorder encompassing a wide range of symptoms like seizures...
[7] Context 8: ORPHA:127 Borjeson-Forssman-Lehmann syndrome · Blepharophimosis HP:0000581 · Deeply set eye HP:0000490 · Feeding difficulties in infancy HP:0008872
[8] Context 9: Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual...
[9] Context 3: by M Hameed · 2023 — The syndrome is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features...
[10] Context 7: by V Jain · 2023
Additional Symptoms
- Seizures
- Intellectual Disability
- Obesity
- Hypogonadism
- Distinctive Facial Features
- Gynaecomastia
- failure to thrive
Diagnostic Tests
Borjeson-Forssman-Lehmann syndrome (BFLS) can be diagnosed through a combination of clinical evaluation and genetic testing.
- Clinical diagnosis: The diagnosis of BFLS is usually made clinically based on the patient's medical history, physical examination, and characteristic features such as intellectual deficit, truncal obesity, hypogonadism, tapered fingers, and short toes [5].
- Genetic testing: Definitive diagnosis of BFLS can be made with a genetic test that identifies mutations in the PHF6 gene [3]. This test can verify the clinical diagnosis and provide a definitive answer.
- Sequence analysis: Sequence analysis of the entire coding region, Next-Generation Sequencing (NGS), and other advanced genetic testing methods can also be used to diagnose BFLS [7].
It's worth noting that genetic counseling for X-linkage should be offered to affected families, as BFLS is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene [2].
Additional Diagnostic Tests
- Clinical evaluation
- Genetic testing (PHF6 gene mutations)
- Sequence analysis (Next-Generation Sequencing and others)
Treatment
Treatment Options for Borjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disorder that affects various aspects of an individual's life. While there is no cure for BFLS, its symptoms can be managed through a combination of surgical and medical interventions.
Symptomatic Treatment
The primary approach to treating BFLS involves addressing the specific symptoms experienced by each individual. This may include:
- Cryptorchidism: Surgical correction to bring undescended testes into their proper position is often necessary.
- Cleft palate: Surgical repair of the cleft palate can improve speech and eating difficulties.
- Hearing impairment: Treatment options for hearing loss, such as hearing aids or cochlear implants, may be recommended.
- Seizures: Antiepileptic medications are prescribed to manage seizures if present.
Medications
In addition to symptomatic treatment, certain medications have been explored for their potential benefits in managing BFLS symptoms. These include:
- Prednisolone: A glucocorticoid drug that has shown promise in inducing apoptosis in malignant lymphoblasts.
- Other medications: Various other medications may be prescribed on a case-by-case basis to address specific symptoms or complications.
Multidisciplinary Approach
Effective management of BFLS often requires collaboration among various healthcare professionals, including:
- Pediatricians
- Geneticists
- Surgeons
- Otolaryngologists
- Psychologists
A comprehensive treatment plan should be tailored to the individual's unique needs and circumstances.
References:
- [3] Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene.
- [4] Treatment. edit. There is no cure for BFLS, but its symptoms can be managed with surgery and medication.
- [5] Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay...
- [6] The treatment for BFLS is focused on the specific symptoms that each person experiences. Treatment may necessitate the collaboration of a group...
Recommended Medications
💊 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
Based on the context provided, here are some conditions that may be considered for differential diagnosis with Borjeson-Forssman-Lehmann syndrome (BFLS):
- Coffin-Lowry Syndrome: A rare genetic disorder characterized by intellectual disability, facial abnormalities, and skeletal deformities.
- Prader-Willi Syndrome: A genetic disorder that causes severe obesity, intellectual disability, and distinctive facial features.
- Wilson-Turner Syndrome: A rare genetic disorder characterized by intellectual disability, short stature, and distinctive facial features.
- Klinefelter Syndrome: A genetic condition where males have an extra X chromosome, leading to intellectual disability, tall stature, and infertility.
These conditions may present with similar symptoms or characteristics as BFLS, such as intellectual disability, obesity, and facial abnormalities. However, each of these conditions has distinct features that can help differentiate them from BFLS.
In addition to these conditions, other disorders that may be considered for differential diagnosis include:
- Filaminopathies: A group of rare genetic disorders caused by mutations in the filamin gene, leading to intellectual disability, hearing loss, and skeletal deformities.
- X-linked intellectual disability syndromes: Other X-linked conditions that can cause intellectual disability, such as fragile X syndrome or X-linked adrenoleukodystrophy.
A comprehensive evaluation of clinical features, genetic testing, and other diagnostic tools is essential to accurately diagnose BFLS and rule out these differential diagnoses.
Additional Differential Diagnoses
- X-linked intellectual disability syndromes
- Filaminopathies
- Wilson-Turner syndrome
- Prader-Willi syndrome
- Klinefelter syndrome
- Coffin-Lowry syndrome
Additional Information
- relatedICD
- http://example.org/icd10/R26.89
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050681
- oboInOwl#hasDbXref
- UMLS_CUI:C0265339
- oboInOwl#hasExactSynonym
- syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
- IAO_0000115
- An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_718
- owl#annotatedSource
- t332453
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050681
- rdf-schema#label
- Borjeson-Forssman-Lehmann syndrome
- rdf-schema#subClassOf
- t332508
- 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.