Rare Oncology News

Disease Profile

Nievergelt syndrome

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.

Unknown

Age of onset

Antenatal

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

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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.

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)

Mesomelic dwarfism Nievergelt type; Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

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 fibula morphology
Abnormality of the calf bone
0002991
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone

[ more ]

0002992
Aplasia/Hypoplasia of the radius
0006501
Camptodactyly of finger
Permanent flexion of the finger
0100490
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Genu valgum
Knock knees
0002857
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Mesomelia
Disproportionately short middle portion of limb
0003027
Mesomelic short stature
0008845
Micromelia
Smaller or shorter than typical limbs
0002983
Radioulnar synostosis
Fused forearm bones
0002974
Tarsal synostosis
Fused ankle bones
0008368
5%-29% of people have these symptoms
Abnormality of the wrist
Abnormalities of the wrists
0003019
Bilateral single transverse palmar creases
0007598
Brachycephaly
Short and broad skull
0000248
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Finger syndactyly
0006101
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Large face
Big face
0100729
Sacral dimple
Spinal dimple
0000960
Scoliosis
0002650
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Metatarsal synostosis
Fusion of the long bones of the feet
0001440
Overgrowth
General overgrowth
0001548
Radial head subluxation
0003048
Skin dimple
0010781
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762

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 Nievergelt syndrome. Click on the link to view a sample search on this topic.