Ablepharon-macrostomia Syndrome; Ams

Description

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Ablepharon-macrostomia Syndrome; Ams

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture
  • Depressed nasal bridge
  • Visual impairment
And another 69 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Ablepharon-macrostomia Syndrome; Ams Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TWIST2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TWIST2
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Barber-Say syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

TWIST2
Specificity
100 %
Genes
100 %
Ablepharon-macrostomia syndrome Comprehensivetest.

By Connective Tissue Gene Tests in United States.

TWIST2
Specificity
100 %
Genes
100 %
Barber-Say syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TWIST2
Specificity
100 %
Genes
100 %
Ablepharon-macrostomia syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TWIST2
Specificity
100 %
Genes
100 %
Barber-Say syndrome Sequencing test.

By Connective Tissue Gene Tests in United States.

TWIST2
Specificity
100 %
Genes
100 %
Ablepharon-macrostomia syndrome Sequencing test.

By Connective Tissue Gene Tests in United States.

TWIST2
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Focal facial dermal dysplasia 3: TWIST2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TWIST2
Specificity
100 %
Genes
100 %
TWIST2.

By Fulgent Genetics Fulgent Genetics in United States.

TWIST2
Specificity
100 %
Genes
100 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Focal facial dermal dysplasia 3, Setleis type.

By Bioarray in Spain.

TWIST2
Specificity
100 %
Genes
100 %
Ablepharon-Macrostomia Syndrome , Sequencing TWIST2 Gene.

By Reference Laboratory Genetics in Spain.

TWIST2
Specificity
100 %
Genes
100 %
Focal Dermal Facial Dysplasia Type 3 (Setleis Syndrome) , Sequencing TWIST2 Gene.

By Reference Laboratory Genetics in Spain.

TWIST2
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %


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