National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Scalp ear nipple syndrome



Other Names:
Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; Finlay-Marks Syndrome; Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; Finlay-Marks Syndrome; Scalp-ear-nipple syndrome See More
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2036

Definition
A rare syndrome characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2006

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.

Showing of 50 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the antihelix 0009738
Abnormality of the scalp 0001965
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
Cataract
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
Hypertension 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 diabetes mellitus
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
Duplication of renal pelvis 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 syndactyly
Webbed 2nd and 3rd toes
0004691
3-4 finger cutaneous syndactyly 0011939
Abnormal hair morphology
Abnormality of the hair
Hair abnormality
[ more ]
0001595
Abnormality of the endocrine system 0000818
Abnormality of the nail 0001597
Abnormality of the thorax
Abnormality of the chest
0000765
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
Autosomal dominant inheritance 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
Showing of 50 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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.

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