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Disease Profile

Dyssegmental dysplasia Silverman-Handmaker type

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

DDSH; Dyssegmental dwarfism Silverman-Handmaker type; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1865

Definition
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

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 pelvic girdle bone morphology
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 stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Micrognathia
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 palate
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
Autosomal recessive inheritance
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.