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Disease Profile
Brooks Wisniewski Brown syndrome
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.
0
Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 3056
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 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
30%-79% of people have these symptoms | ||
Agenesis of |
0001274 | |
Almond-shaped palpebral fissure |
Almond shaped eyes
Almond-shaped opening between the eyelids
[ more ] |
0007874 |
Bulbous nose | 0000414 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
Decreased muscle mass | 0003199 | |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Epicanthus inversus | 0000537 | |
Esotropia |
Inward turning cross eyed
|
0000565 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hyperactivity |
More active than typical
|
0000752 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Increased serum lactate | 0002151 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Multiple joint |
0002828 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic atrophy | 0000648 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Poor coordination | 0002370 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Short philtrum | 0000322 | |
Spastic diplegia | 0001264 | |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
Tented upper lip vermilion | 0010804 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Percent of people who have these symptoms is not available through HPO | ||
0002353 | ||
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Narrow mouth |
Small mouth
|
0000160 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
0001250 | ||
Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ] |
0008850 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Learn moreThese 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. In-Depth Information
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