Rare Pediatrics News
Disease Profile
Kniest like dysplasia lethal
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
Other names (AKA)
Lethal Kniest-like dysplasia; Arthrosis, flat face, hypotonia, short neck and macrocephaly
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: 2347
Definition
A rare, lethal, congenital , chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.
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
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal cartilage matrix | 0008178 | |
| Abnormality of the ischium | 0003174 | |
| Anterior rib cupping | 0000907 | |
| 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 |
|
Short fingers or toes
|
0001156 | |
| Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
| Broad long bones |
Wide long bones
Widened long bones
[ more ] |
0005622 |
|
Cleft roof of mouth
|
0000175 | |
| Coronal cleft vertebrae | 0003417 | |
| Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Flat face |
Flat facial shape
|
0012368 |
| Hypoplastic ilia | 0000946 | |
| Hypoplastic vertebral bodies |
Underdeveloped back bones
|
0008479 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Mesomelic/rhizomelic limb shortening | 0005026 | |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
| Severe short-limb dwarfism | 0008890 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short ribs | 0000773 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
| 0000007 | ||
| Broad ribs |
Wide ribs
|
0000885 |
| Dumbbell-shaped long bone | 0000947 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Lethal short-limbed |
0008909 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Narrow mouth |
Small mouth
|
0000160 |
| Patent ductus arteriosus | 0001643 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
| Relative macrocephaly |
Relatively large head
|
0004482 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Short diaphyses |
Short shaft of long bone
|
0000941 |
| 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 Kniest like dysplasia lethal. Click on the link to view a sample search on this topic.