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Disease Profile

Brooks Wisniewski Brown 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.

Unknown

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

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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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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3056

Definition
X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.

Visit the Orphanet disease page for more resources.

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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Short stature
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 corpus callosum
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
Developmental regression
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 hypotonia
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 contractures
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
Nystagmus
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
EEG abnormality
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
Seizure
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
X-linked recessive inheritance

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.

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 Brooks Wisniewski Brown syndrome. Click on the link to view a sample search on this topic.

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