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Disease Profile
Mesomelic dwarfism cleft palate camptodactyly
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
Q78.8
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)
Reardon-Hall-Slaney syndrome; Mesomelic limb shortening and bowing
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: 2631
Definition
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive .
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 the hip bone |
Abnormality of the hips
|
0003272 |
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
|
Cleft roof of mouth
|
0000175 | |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
| Skin dimple | 0010781 | |
| 30%-79% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Abnormal metacarpal morphology |
Abnormal shape of long bones of hand
|
0005916 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
| Vertebral segmentation defect | 0003422 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Bowing of the arm |
Bending of the arm
|
0006488 |
| Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ] |
0002979 |
| Mesomelic arm shortening | 0005011 | |
| Mesomelic leg shortening | 0004987 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
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 Mesomelic dwarfism cleft palate camptodactyly. Click on the link to view a sample search on this topic.