Deafness, epiphyseal dysplasia, short stature

Title

Other Names:

Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction; Deafness, femoral epiphyseal dysplasia, short stature and developmental delay; Chitty-Hall-Baraitser syndrome

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases

Summary Summary

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

Orpha Number: 3218

Disease definition

This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).

Epidemiology

It has been described in two brothers born to consanguineous parents.

Clinical description

They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts.

Genetic counseling

This syndrome is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Last updated: 10/22/2007

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
Abnormality of femoral epiphysis	Abnormality of thighbone end part	0006499
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Short stature	Decreased body height Small stature [ more ]	0004322
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies		0003312
Global developmental delay		0001263
Hyperlordosis	Prominent swayback	0003307
Inguinal hernia		0000023
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Nasolacrimal duct obstruction		0000579
Pointed chin	Pointy chin Small pointed chin Witch's chin [ more ]	0000307
Short neck	Decreased length of neck	0000470
Short thorax		0010306
Triangular face	Face with broad temples and narrow chin Triangular facial shape [ more ]	0000325
Umbilical hernia		0001537
5%-29% of people have these symptoms
Brachydactyly		0001156
Frontal bossing		0002007
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Retinal detachment	Detached retina	0000541
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Epiphyseal dysplasia		0002656
Intellectual disability, moderate		0002342
Lacrimal duct stenosis	Narrowing of the tear duct	0007678
Sensorineural hearing impairment		0000407

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

Last updated: 6/1/2018

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 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 Deafness, epiphyseal dysplasia, short stature. Click on the link to view a sample search on this topic.

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