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Disease Profile
Deafness, epiphyseal dysplasia, short stature
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
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
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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.
They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts.
This syndrome is transmitted as an autosomal recessive trait .
Visit the Orphanet disease page for more resources.
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.
| 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 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Global |
0001263 | |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Inguinal hernia | 0000023 | |
|
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 | ||
|
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 | ||
| 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 | |
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.