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Disease Profile
Hydrocephalus-cleft palate-joint contractures syndrome
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
Q87.8
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)
Aase-Smith syndrome I; Joint contractures with other abnormalities
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
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 the hip bone |
Abnormality of the hips
|
0003272 |
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
|
Cleft roof of mouth
|
0000175 | |
| Dandy-Walker malformation | 0001305 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
| Multiple joint |
0002828 | |
| 0002650 | ||
| Trismus |
Lockjaw
|
0000211 |
| 30%-79% of people have these symptoms | ||
| Aplasia/Hypoplasia of the radius | 0006501 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| 5%-29% of people have these symptoms | ||
| 0002664 | ||
| Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ] |
0001238 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| 0006742 | ||
| Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
| Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
|
Drooping upper eyelid
|
0000508 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Clinical overlap between Aase-Smith syndrome I and Gordon syndrome (see this term) has been suggested, due to the presence of distal arthrogryposis and cleft palate in both syndromes.
Visit the Orphanet disease page for more information.
|
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 Hydrocephalus-cleft palate-joint contractures syndrome. Click on the link to view a sample search on this topic.
References
- Victor A. McKusick. AASE-SMITH SYNDROME I. OMIM. 2/20/2014; https://www.omim.org/entry/147800.
- Aase-Smith syndrome. Orphanet. July 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916. Accessed 6/22/2016.