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Disease Profile
Kenny-Caffey syndrome type 2
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.
0
Age of onset
-
ICD-10
Q87.1
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)
KCS2; Dwarfism, cortical thickening of tubular bones and transient hypocalcemia; Kenny-Caffey syndrome, autosomal dominant
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases
Summary
Kenny-Caffey
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 | ||
| Cortical thickening of long bone diaphyses | 0005791 | |
| Delayed cranial suture closure | 0000270 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Stenosis of the medullary cavity of the long bones | 0100254 | |
| 30%-79% of people have these symptoms | ||
| Abnormal circulating follicle-stimulating |
0030346 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Basal ganglia calcification | 0002135 | |
| Bilateral microphthalmos |
Abnormally small eyeball on both sides
|
0007633 |
| Calvarial osteosclerosis | 0005450 | |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
| 0008198 | ||
| Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
| Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
| Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypocalcemic |
Low calcium seizures
|
0002199 |
| Hypocalcemic tetany | 0003472 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Papilledema | 0001085 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Postnatal macrocephaly | 0005490 | |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| Retinal calcification | 0007862 | |
| Thin long bone diaphyses |
Thin shaft of long bone
|
0006470 |
| 5%-29% of people have these symptoms | ||
| Developmental |
Clouding of the lens of the eye at birth
|
0000519 |
| High pitched voice | 0001620 | |
| Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ] |
0006335 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the medullary cavity of the long bones |
Abnormality of the marrow cavity of the long bones
|
0100253 |
| 0000006 | ||
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
| Increased bone mineral density |
Increased bone density
|
0011001 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Seizure | 0001250 | |
| Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
| Thickened cortex of long bones | 0000935 | |
| Transient hypophosphatemia | 0008285 | |
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Kenny-Caffey syndrome type 2. Click on the link to view a sample search on this topic.
References
- Kenny-Caffey Syndrome. National Organization for Rare Disorders. 2012; https://rarediseases.org/rare-diseases/kenny-caffey-syndrome/.
- Kenny-Caffey syndrome type 2. Online Mendelian Inheritance in Man (OMIM). June 2, 2017; https://www.omim.org/entry/127000.