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Disease Profile

Kenny-Caffey syndrome type 2

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.

Unknown

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

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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.

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)

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 syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as they occur.[1][2]

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
Short stature
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 hormone level
0030346
Anemia
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
Congenital hypoparathyroidism
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 seizures
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 cataract
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
Autosomal dominant inheritance
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

  1. Kenny-Caffey Syndrome. National Organization for Rare Disorders. 2012; https://rarediseases.org/rare-diseases/kenny-caffey-syndrome/.
  2. Kenny-Caffey syndrome type 2. Online Mendelian Inheritance in Man (OMIM). June 2, 2017; https://www.omim.org/entry/127000.