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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.
<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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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.
orphanet

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
Brachydactyly
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 palate
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
Autosomal recessive inheritance
0000007
Broad ribs
Wide ribs
0000885
Dumbbell-shaped long bone
0000947
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Lethal short-limbed short stature
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.