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scalp-ear-nipple syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

scalp-ear-nipple syndrome

MONDO:0008404

Also known as:Finlay-Marks syndromeSENSSen syndrome

Overview

Scalp-ear-nipple syndrome is characterized 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. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

GeneticsAutosomal dominant · KCTD1 (chr 18)

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Aplasia cutis congenita, Sparse axillary hair, and Sparse pubic hair; and very common findings: Aplasia/Hypoplasia of the nipples, Breast aplasia, Underdeveloped antitragus, and Small earlobe and others. 70 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Dry skin, Patchy alopecia, Decreased sweating (hypohidrosis)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KCTD1 encodes potassium channel tetramerization domain containing 1 (257 aa). May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent Highest expression in Esophagus Mucosa (36.4 TPM) and Brain Frontal Cortex BA9 (36.2 TPM).

Scalp-ear-nipple syndrome is associated with mutations in the KCTD1 gene on chromosome 18.

The KCTD1 protein participates in Negative regulation of activity of TFAP2 (AP-2) family transcription factors and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors pathways.

KCTD1 is classified as a druggable target (Transcription Factor and Transcription Factor Binding categories) with score 0.0.

Diagnosis

Genetic testing for KCTD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 11 very common features, 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for scalp-ear-nipple syndrome.

7 publications have been identified in PubMed for scalp-ear-nipple syndrome. Research spans Basic Science / Preclinical (71%) and Case Report / Case Series (29%).

Recent Publications

Deshmukh D (2026). [PMID: 41160101](https://pubmed.ncbi.nlm.nih.gov/41160101/). *International journal of dermatology*. [Case Report / Case Series]
Liao Y (2025). [PMID: 41086914](https://pubmed.ncbi.nlm.nih.gov/41086914/). *The Journal of biological chemistry*. [Case Report / Case Series]
Meng X (2025). [PMID: 39424163](https://pubmed.ncbi.nlm.nih.gov/39424163/). *Gene*. [Basic Science / Preclinical]
Pinkas DM (2024). [PMID: 39191250](https://pubmed.ncbi.nlm.nih.gov/39191250/). *Structure (London, England : 1993)*. [Basic Science / Preclinical]
Miller KA (2024). [PMID: 38296633](https://pubmed.ncbi.nlm.nih.gov/38296633/). *Journal of medical genetics*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:181270

Orphanet

European rare disease database

Orphanet:2036

GARD

Genetic and Rare Diseases Info Center

GARD:159

Questions for Your Care Team

→Should I pursue genetic testing for KCTD1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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scalp-ear-nipple syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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