Brooks Wisniewski Brown syndrome

Title

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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

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.

Last updated: 1/1/2017

Symptoms 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.

Showing of 53 |

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		0001419

Showing of 53 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

You can help advance
rare disease research! You can help advance rare disease research!