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Disease Profile
Circumferential skin creases Kunze type
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
Infancy
ICD-10
Q82.8
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)
(CSC-KT); Michelin tire baby syndrome
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Circumferential skin creases Kunze type (CSC-KT) is a rare
In some cases, CSC-KT is caused by changes (
CSC-KT caused by mutations in the TUBB and MAPRE2 gene may be classified under the group of diseases known as tubulinopathies, because like the mutations causing other tubulinopathies, mutations in the TUBB and MAPRE2 gene affect a
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 | ||
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Increased number of skin folds | 0007522 | |
Thickened skin |
Thick skin
|
0001072 |
30%-79% of people have these symptoms | ||
Cleft roof of mouth
|
0000175 | |
Irregular hyperpigmentation | 0007400 | |
5%-29% of people have these symptoms | ||
Abnormality of the musculature |
Muscular abnormality
|
0003011 |
Cerebellar vermis atrophy | 0006855 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dandy-Walker malformation | 0001305 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
External ear malformation | 0008572 | |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Localized neuroblastoma | 0006768 | |
Long fingers | 0100807 | |
Long philtrum | 0000343 | |
Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
Low-set, posteriorly rotated ears | 0000368 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Pectus excavatum |
Funnel chest
|
0000767 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Umbilical hernia | 0001537 | |
Upper limb asymmetry |
Unequal size of arms
|
0100560 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the skin | 0000951 | |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Brachycephaly |
Short and broad skull
|
0000248 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Flat face |
Flat facial shape
|
0012368 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplastic nipples |
Small nipples
|
0002557 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Motor delay | 0001270 | |
Narrow mouth |
Small mouth
|
0000160 |
Periorbital fullness |
Puffiness around eye
|
0000629 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Short neck |
Decreased length of neck
|
0000470 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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 Circumferential skin creases Kunze type. Click on the link to view a sample search on this topic.
References
- Dentici ML, Terracciano A, Bellacchio E, Capolino R, Novelli A, Digilio MC & Dallapiccola B. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. Clin Genet. June, 2018; 93(6):1223-1228. https://www.ncbi.nlm.nih.gov/pubmed/29427453.
- Rothman IL. Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. Pediatr Dermatol. NovemberDecember, 2014; 31(6):659-63. https://www.ncbi.nlm.nih.gov/pubmed/25424205.
- Ramphul K, Mejias SG, Ramphul-Sicharam Y. A Rare Case of Michelin Tire Baby Syndrome in a Newborn. Cureus. 2018; 10(2):e2222. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914916/.
- Isrie M, Breuss M, Tian G, et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.. American Journal of Human Genetics. 2015; 97(6):790-800. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678434/.
- Congenital symmetric circumferential skin creases-1. OMIM. 2016; https://www.omim.org/entry/156610.
- Bahi-Buisson N, Cavallin M. Tubulinopathies Overview. GeneReviews. March 24, 2016; https://www.ncbi.nlm.nih.gov/books/NBK350554/.