Branchial arch syndrome X-linked

Title

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

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

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: 11/19/2014

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.

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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

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

Last updated: 8/1/2019

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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 Genetics Home Reference.

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

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