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Disease Profile
Dyssegmental dysplasia Silverman-Handmaker type
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
Antenatal
ICD-10
Q77.7
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)
DDSH; Dyssegmental dwarfism Silverman-Handmaker type; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1865
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 |
Abnormal shape of pelvic girdle bone
|
0002644 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Anisospondyly | 0002879 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
| Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| 30%-79% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
|
Cleft roof of mouth
|
0000175 | |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
| Inguinal hernia | 0000023 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the abdominal wall | 0004298 | |
| 0000007 | ||
| Calvarial skull defect |
Cranial defect
Skull defect
[ more ] |
0001362 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Flat face |
Flat facial shape
|
0012368 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Narrow mouth |
Small mouth
|
0000160 |
| Neonatal death |
Neonatal lethal
|
0003811 |
| Overgrowth |
General overgrowth
|
0001548 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
| Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Thoracic hypoplasia |
Small chest
Small thorax
[ more ] |
0005257 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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 Dyssegmental dysplasia Silverman-Handmaker type. Click on the link to view a sample search on this topic.