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Branchial arch syndrome X-linked


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Other Names:
Mandibulofacial dysostosis Toriello type; MFD Toriello type
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary


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

Orpha Number: 1131

Definition
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2014

Symptoms Symptoms


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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 29 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Branchial anomaly 0009794
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ]
0000405
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
0010669
Low-set, posteriorly rotated ears 0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
0000426
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Sensorineural hearing impairment 0000407
Short stature
Decreased body height
Small stature
[ more ]
0004322
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
0000325
Webbed neck
Neck webbing
0000465
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
0100840
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
5%-29% of people have these symptoms
Abnormal mitral valve morphology 0001633
Abnormality of the pulmonary artery
Abnormality of lung artery
0004414
Asymmetric growth
Uneven or disproportionate growth of one body part compared to another
0100555
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
0000324
Pectus excavatum
Funnel chest
0000767
Ptosis
Drooping upper eyelid
0000508
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Percent of people who have these symptoms is not available through HPO
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
0002705
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Specific learning disability 0001328
X-linked inheritance 0001417
Showing of 29 |
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


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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.

Learn More Learn More


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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 Branchial arch syndrome X-linked. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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
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You can help advance rare disease research!
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