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Disease Profile
Scalp ear nipple 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
Q87.8
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)
Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; Finlay-Marks Syndrome;
Categories
Congenital and Genetic Diseases; Female Reproductive Diseases; Skin Diseases
Summary
Orpha Number: 2036
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 scalp morphology |
Abnormality of the scalp
|
0001965 |
Abnormality of the antihelix | 0009738 | |
Abnormality of the skin | 0000951 | |
Aplasia/Hypoplasia of the nipples |
Absent/small nipples
Absent/underdeveloped nipples
[ more ] |
0006709 |
Breast aplasia |
Absent breast
|
0100783 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Small earlobe |
Small earlobes
|
0000385 |
Sparse hair | 0008070 | |
Underdeveloped antitragus | 0011251 | |
Underdeveloped tragus | 0011272 | |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
0000822 | ||
Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] |
0100540 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
5%-29% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
0005580 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ] |
0000625 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Iris coloboma |
Cat eye
|
0000612 |
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 |
Pyelonephritis | 0012330 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Short columella | 0002000 | |
Ureteral duplication |
Double ureter
|
0000073 |
1%-4% of people have these symptoms | ||
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Percent of people who have these symptoms is not available through HPO | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
3-4 finger cutaneous syndactyly | 0011939 | |
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ] |
0001595 |
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Abnormality of the endocrine system | 0000818 | |
Abnormality of the nail | 0001597 | |
Agenesis of permanent teeth |
Failure of development of permanent teeth
Missing teeth
[ more ] |
0006349 |
Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
0000006 | ||
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
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 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
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
- Genetics Home Reference (GHR) contains information on Scalp ear nipple syndrome. This website is maintained by the National Library of Medicine.
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 Scalp ear nipple syndrome. Click on the link to view a sample search on this topic.