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Disease Profile
Bone dysplasia lethal Holmgren 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.
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
Q77.8
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
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.
Orpha Number: 1842
Definition
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome , or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
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 femur morphology |
Abnormality of the thighbone
|
0002823 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Severe short-limb dwarfism | 0008890 | |
| Short ribs | 0000773 | |
| Weight loss | 0001824 | |
| 30%-79% of people have these symptoms | ||
| Abnormal diaphysis morphology |
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ] |
0000940 |
| Abnormal thumb morphology |
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity
[ more ] |
0001172 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| Bell-shaped thorax | 0001591 | |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
| Flat face |
Flat facial shape
|
0012368 |
| Frontal bossing | 0002007 | |
| Hearing abnormality |
Abnormal hearing
|
0000364 |
| High forehead | 0000348 | |
| Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Metaphyseal dysplasia | 0100255 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Short neck |
Decreased length of neck
|
0000470 |
| 5%-29% of people have these symptoms | ||
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| 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 |
| Diarrhea |
Watery stool
|
0002014 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hernia | 0100790 | |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Nausea and vomiting | 0002017 | |
| Patent ductus arteriosus | 0001643 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ] |
0005989 |
| Talipes | 0001883 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Skeletal dysplasia | 0002652 | |
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 Bone dysplasia lethal Holmgren type. Click on the link to view a sample search on this topic.