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Disease Profile
Kozlowski-Krajewska syndrome
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.
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Age of onset
Neonatal
ICD-10
Q87.2
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)
Intellectual disability-polydactyly-uncombable hair syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 3082
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 | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of |
0010978 | |
Abnormality of the antihelix | 0009738 | |
Abnormality of the antitragus | 0009896 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Aplasia/Hypoplasia of fingers |
Absent/small fingers
Absent/underdeveloped fingers
[ more ] |
0006265 |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] |
0009906 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Aplasia/Hypoplasia of toe |
Absent/small toe
Absent/underdeveloped toe
[ more ] |
0001991 |
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Frontal bossing | 0002007 | |
Hernia of the abdominal wall | 0004299 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Metatarsus valgus | 0010508 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ] |
0002217 |
Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
Uncombable hair | 0030056 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
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.
- 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 Kozlowski-Krajewska syndrome. Click on the link to view a sample search on this topic.