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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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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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: 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 hypotonia
Low or weak muscle tone
0001252
Short neck
Decreased length of neck
0000470
5%-29% of people have these symptoms
Anemia
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 cardiomyopathy
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
Autosomal recessive inheritance
0000007
Short stature
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.