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Disease Profile
Juberg-Hayward syndrome
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
Q87.0
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)
Cleft lip/palate with abnormal thumbs and microcephaly; Orocraniodigital syndrome; JHS
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2319
Definition
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly , facial dysmorphism, urogenital anomalies and intellectual deficit.
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 | ||
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
| 30%-79% of people have these symptoms | ||
| Abnormal vertebral morphology | 0003468 | |
| Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
| Hammertoe |
Hammer toe
Hammertoes
[ more ] |
0001765 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Hypospadias | 0000047 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| 0002650 | ||
| Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
| Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
| 5%-29% of people have these symptoms | ||
| Anteriorly placed anus | 0001545 | |
| Dandy-Walker malformation | 0001305 | |
|
Drooping upper eyelid
|
0000508 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal abdomen morphology |
Abnormality of abdomen structure
|
0001438 |
| Abnormality of the carpal bones | 0001191 | |
| Abnormality of the radial head | 0003995 | |
| Abnormality of toe |
Abnormalities of the toes
|
0001780 |
| Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 |
| 0000007 | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Growth |
0000824 | |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
| Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
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 Juberg-Hayward syndrome. Click on the link to view a sample search on this topic.