Scalp-ear-nipple Syndrome

Description

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

Clinical Features

Top most frequent phenotypes and symptoms related to Scalp-ear-nipple Syndrome

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears
  • Depressed nasal bridge
  • Hypertension
  • Epicanthus
  • Myopia
  • Anteverted nares

And another 64 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Scalp-ear-nipple Syndrome Is also known as finlay-marks syndrome, sen syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Scalp-ear-nipple Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene).

By CGC Genetics (Portugal).

KCTD1
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH (Germany).

BCS1L, SNRPE, SOX18, ST14, TRPS1, IFT122, WNT10A, EDARADD, SHOC2, LPAR6, APCDD1, TP63, MPLKIP, UBR1, BANF1, CDH3, PORCN, CDSN, KCTD1, WDR19 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
KCTD1.

By Fulgent Genetics Fulgent Genetics (United States).

KCTD1
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa (United States).

ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...)

View the complete list with 230 more genes
Specificity
1 %
Genes
100 %
Adams-Oliver Syndrome Panel.

By Blueprint Genetics (Finland).

UBR1, KCTD1, DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1
Specificity
13 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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