Rare Hematology News

Disease Profile

Scalp ear nipple syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

rnn-autosomaldominant.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

Not applicable

no.svg

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

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.

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
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
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
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

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.