Scalp-ear-nipple syndrome
Synonyms: Finlay-Marks syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Scalp-ear-nipple syndrome | Finlay-Marks syndrome |
| fr | Syndrome du cuir chevelu-oreilles-mamelons | Syndrome de Finlay-Marks |
| de | Kopfhaut-Ohr-Mamillen-Syndrom | Finlay-Marks-Syndrom |
| es | Síndrome de cuero cabelludo-oreja-pezón | Síndrome de Finlay-Markes |
| it | Sindrome cuoio capelluto-orecchio-capezzolo | Sindrome di Finlay-Marks |
| nl | Scalp - oor - tepel-syndroom | Syndroom van Finlay-Marks |
| pt | Síndrome couro cabeludo-pavilhão auricular-mamilo | Síndrome Finlay-Marks |
| pl | Zespół skóry głowy-ucha-sutka | Zespół Finlay'a i Marksa |
| cs | Syndrom skalp-ucho-bradavka | Finlayův-Marksův syndrom · Finlay-Marksův syndrom |
| uk | Синдром скальп–вухо–сосок (SEN) | Синдром Фінлея-Маркса |
| zh | 头皮-耳朵-乳头综合征 | Finlay-Marks 综合征 |
| tr | Saçlı deri-kulak-meme sendromu | Finlay-Marks sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181270 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008404 | E | validated | |
| MeSH | C536623 | E | validated | |
| UMLS | C1867020 | E | validated | |
| GARD | 159 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:180173Deficient breast volume or number
rare gynecological and obstetric diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3391Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCTD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18249 | ENSG00000134504 | 613420 | 18q11.2 | potassium channel tetramerization domain containing 1 | 23541344[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0000951 | Abnormality of the skin | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0100783 | Breast aplasia | |
| HP:0008551 | Microtia | |
| HP:0000385 | Small earlobe | |
| HP:0008070 | Sparse hair | |
| HP:0011251 | Underdeveloped antitragus | |
| HP:0011272 | Underdeveloped tragus | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000518 | Cataract | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000822 | Hypertension | |
| HP:0100540 | Palpebral edema | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000506 | Telecanthus | |
| HP:0100651 | Type I diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0005580 | Duplication of renal pelvis | |
| HP:0000625 | Eyelid coloboma | |
| HP:0000966 | Hypohidrosis | |
| HP:0012330 | Pyelonephritis | |
| HP:0000073 | Ureteral duplication | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2036
- This record as JSON: /data/d/2036.json