Rare Endocrinology News
Disease Profile
Spondylometaepiphyseal dysplasia short limb-hand 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 >
Age of onset
Neonatal
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)
SMED-SL; SMED short limb-hand type; SMED type 2;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 93358
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormal calcification of the carpal bones |
Abnormal calcification of the wrist bones
|
0009164 |
Abnormality of the neck | 0000464 | |
Anterior rib cupping | 0000907 | |
Atlantoaxial instability | 0003467 | |
0000007 | ||
Bell-shaped thorax | 0001591 | |
Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ] |
0002979 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad phalanx |
Wide digital bones
|
0006009 |
C1-C2 subluxation | 0003320 | |
Calcification of falx cerebri | 0005462 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 |
Flared iliac wings | 0002869 | |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Frontal bossing | 0002007 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hip subluxation |
Partial hip dislocation
|
0030043 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the odontoid process | 0003311 | |
Knee flexion contracture | 0006380 | |
Long fibula |
Long calf bone
|
0003085 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Pectus excavatum |
Funnel chest
|
0000767 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Posterior rib cupping | 0000922 | |
Progressive calcification of costochondral cartilage | 0006600 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Recurrent pneumonia | 0006532 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
0002650 | ||
Short long bone |
Long bone shortening
|
0003026 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short ribs | 0000773 | |
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
Thoracic hypoplasia |
Small chest
Small thorax
[ more ] |
0005257 |
Tracheal calcification | 0002787 | |
Triangular shaped distal phalanges of the hand |
Triangular shaped outermost bone of the hand
|
0009875 |
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 Spondylometaepiphyseal dysplasia short limb-hand type. Click on the link to view a sample search on this topic.