National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Deafness, epiphyseal dysplasia, short stature



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:

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

Orpha Number: 3218

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: 10/1/2007

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
Blocked tear duct
0000579
Pointed chin
Pointy chin
Small pointed chin
Witch's chin
[ more ]
0000307
Short neck
Decreased length of neck
0000470
Short thorax
Shorter than typical length between neck and abdomen
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
Short fingers or toes
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
Abnormal development of the ends of long bones in arms and legs
0002656
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Intellectual disability, moderate
IQ between 34 and 49
0002342
Lacrimal duct stenosis
Narrowing of the tear duct
0007678
Sensorineural hearing impairment 0000407
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Last updated: 7/1/2020

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


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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