Rare Nephrology News

Disease Profile

Borjeson-Forssman-Lehmann syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Borjeson Syndrome; BFLS; BORJ;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Broad foot
Broad feet
Wide foot

[ more ]

0001769
Camptodactyly of toe
0001836
Coarse facial features
Coarse facial appearance
0000280
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Gynecomastia
Enlarged male breast
0000771
Hypogonadism
Decreased activity of gonads
0000135
Hypoplasia of penis
Underdeveloped penis
0008736
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules

[ more ]

0009748
Muscular hypotonia
Low or weak muscle tone
0001252
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Short toe
Short toes
Stubby toes

[ more ]

0001831
Sparse hair
0008070
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Truncal obesity
0001956
30%-79% of people have these symptoms
Blepharophimosis
Narrow opening between the eyelids
0000581
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Feeding difficulties in infancy
0008872
Prominent supraorbital ridges
Prominent brow
0000336
Ptosis
Drooping upper eyelid
0000508
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
5%-29% of people have these symptoms
Abnormality of the hip bone
Abnormality of the hips
0003272
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oral cleft
Cleft of the mouth
0000202
Peripheral neuropathy
0009830
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Percent of people who have these symptoms is not available through HPO
Cervical spinal canal stenosis
0008445
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
EEG abnormality
0002353
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hypoplasia of the prostate
Underdeveloped prostate
0008687
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Kyphosis
Hunched back
Round back

[ more ]

0002808
Macrotia
Large ears
0000400
Micropenis
Short penis
Small penis

[ more ]

0000054
Narrow palpebral fissure
Small opening between the eyelids
0045025
Obesity
Having too much body fat
0001513
Scheuermann-like vertebral changes
0008478
Scoliosis
0002650
Shortening of all distal phalanges of the fingers
Shortening of all outermost bones of the fingers
0006118
Shortening of all middle phalanges of the fingers
0006110
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]

0002684
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Widely spaced toes
0008094
X-linked recessive inheritance
0001419

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Borjeson-Forssman-Lehmann syndrome. Click on the link to view a sample search on this topic.

References

  1. Gecz J. Borjeson-Forssman-Lehman Syndrome. National Organization for Rare Disorders (NORD). 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/838/viewAbstract. Accessed 10/20/2011.