I can’t find (or verify) any specific new (recent) research/news items about Scalp–ear–nipple syndrome from the information I currently have access to. What I can do is summarize the most authoritative, up-to-date baseline medical references I have for the condition, and suggest where “latest news” would typically appear.
What the current authoritative overviews say
- Scalp–ear–nipple syndrome (SEN) is a rare genetic syndrome involving scalp skin defects (aplasia cutis congenita), ear malformations, and absent or underdeveloped nipples; it can also involve additional anomalies (e.g., nails, teeth, digits, and kidneys).[1][6]
- The main gene implicated is KCTD1, with SEN described as typically autosomal dominant (though there is discussion in the literature of genetic heterogeneity / other inheritance patterns in rare cases).[3][6]
- A recent NORD/MONDO disease overview states about 30 cases have been described, with renal/urinary abnormalities and other features also reported.[5]
Where you’ll usually see the latest news
To get true “latest news” (new papers, case reports, clinical trials, guideline updates), check:
- PubMed for new SEN/KCTD1 publications.
- ClinicalTrials.gov (for any trials mentioning SEN, KCTD1, or relevant imaging/skin reconstruction endpoints).
- Orphanet / OMIM updates (often summarize new findings when available).
If you want, tell me whether you mean:
1) news about research papers, 2) clinical trials, or 3) patient/community news,
and I’ll tailor the search terms and filter accordingly.
Sources
Find symptoms and other information about Scalp-ear-nipple syndrome.
rarediseases.info.nih.govScalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Explore symptoms, inheritance, genetics of this condition.
medlineplus.govIntegrated disease information for Scalp-Ear-Nipple Syndrome including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 78 data sources
www.malacards.orgThe scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome ...
pmc.ncbi.nlm.nih.govMutations in human and/or mouse homologs are associated with this disease. Synonyms: Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; SENS
www.informatics.jax.orgClinical resource with information about Scalp-ear-nipple syndrome and its clinical features, KCTD1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB
www.ncbi.nlm.nih.govRare Disease Database Rare Disease Database Scalp ear nipple syndrome Print Synonyms Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples Sen Syndrome Finlay-Marks Syndrome Scalp-ear-nipple syndrome For more information, visit GARD For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News National Organization for Rare Disorders X Your Name (Required) Your Email (Required) I show my stripes for... (Required) Max. 5 words Photo (Required) Max...
rarediseases.orgScalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood),
rarediseases.org1 Scalp-ear-nipple syndrome Description Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family. Babies with scalp-ear-nipple syndrome are born with a condition called aplasia cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. These lesions are...
medlineplus.gov