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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.

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US Estimated

Europe Estimated

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.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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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.

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Not applicable

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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.
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.

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
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

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.