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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of femoral epiphysis	Very frequent (present in 80%-99% of cases)
Hearing impairment	Very frequent (present in 80%-99% of cases)
Abnormal form of the vertebral bodies	Frequent (present in 30%-79% of cases)
Hyperlordosis	Frequent (present in 30%-79% of cases)
Inguinal hernia	Frequent (present in 30%-79% of cases)
Intellectual disability, mild	Frequent (present in 30%-79% of cases)
Myopia	Frequent (present in 30%-79% of cases)
Nasolacrimal duct obstruction	Frequent (present in 30%-79% of cases)
Pointed chin	Frequent (present in 30%-79% of cases)
Short neck	Frequent (present in 30%-79% of cases)
Short thorax	Frequent (present in 30%-79% of cases)
Triangular face	Frequent (present in 30%-79% of cases)
Umbilical hernia	Frequent (present in 30%-79% of cases)
Brachydactyly	Occasional (present in 5%-29% of cases)
Frontal bossing	Occasional (present in 5%-29% of cases)
Neurological speech impairment	Occasional (present in 5%-29% of cases)
Retinal detachment	Occasional (present in 5%-29% of cases)
Autosomal recessive inheritance	-
Epiphyseal dysplasia	-
Growth delay	-
Intellectual disability, moderate	-
Lacrimal duct stenosis	-
Sensorineural hearing impairment	-

Last updated: 9/1/2017

Do you have updated information on this condition? Let us know.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

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.