Aplasia Cutis Congenita, Nonsyndromic; Acc

Description

Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported.Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (OMIM ) and Adams-Oliver syndrome (AOS ). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS ) (Hirschhorn et al., 1965; Fryns et al., 1973).Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC.

Clinical Features

Top most frequent phenotypes and symptoms related to Aplasia Cutis Congenita, Nonsyndromic; Acc

  • Pica
  • Syndactyly
  • Abnormality of the genital system
  • Polydactyly
  • Facial palsy
  • Anal atresia
  • Pulmonary hypoplasia
  • Choanal atresia
  • Skin ulcer
  • Preaxial polydactyly
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Aplasia Cutis Congenita, Nonsyndromic; Acc have a estimated birth prevalence of 10 per 100k in Europe.


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Aplasia Cutis Congenita, Nonsyndromic; Acc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BMS1.

By Fulgent Genetics Fulgent Genetics in United States.

BMS1
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, PHF6, MED12, ARID1B, TAF1, NOTCH1, SMARCE1, SOX11, KMT2A, SMARCA4, SMARCB1, ARID1A, EP300 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Adams-Oliver syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

NOTCH1, ARHGAP31, DOCK6, RBPJ, EOGT, DLL4
Specificity
17 %
Genes
50 %
Adams-Oliver syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

NOTCH1, ARHGAP31, DOCK6, RBPJ, EOGT, DLL4
Specificity
17 %
Genes
50 %
Adams-Oliver syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

NOTCH1, ARHGAP31, DOCK6, RBPJ, EOGT, DLL4
Specificity
17 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Adams-Oliver syndrome type 6.

By Centogene AG - the Rare Disease Company in Germany.

DLL4
Specificity
100 %
Genes
50 %
DLL4.

By Fulgent Genetics Fulgent Genetics in United States.

DLL4
Specificity
100 %
Genes
50 %
Adams-Oliver Syndrome Panel.

By Blueprint Genetics in Finland.

NOTCH1, UBR1, ARHGAP31, DOCK6, RBPJ, EOGT, KCTD1, DLL4
Specificity
13 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
50 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
50 %
Adams-Oliver Type 6 Syndrome, Sequencing DLL4 Gene.

By Reference Laboratory Genetics in Spain.

DLL4
Specificity
100 %
Genes
50 %

Alternate names

Aplasia Cutis Congenita, Nonsyndromic; Acc Is also known as congenital defect of skull and scalp, scalp defect, congenital;.



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