Facial Dysmorphism-lens Dislocation-anterior Segment Abnormalities-spontaneous Filtering Blebs Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

Genes related to Facial Dysmorphism-lens Dislocation-anterior Segment Abnormalities-spontaneous Filtering Blebs Syndrome

ASPH

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Clinical Features

Top most frequent phenotypes and symptoms related to Facial Dysmorphism-lens Dislocation-anterior Segment Abnormalities-spontaneous Filtering Blebs Syndrome

Abnormal facial shape
Downslanted palpebral fissures
Microphthalmia
Visual loss
Retrognathia
Wide nose
Prominent nose
Dental malocclusion
Convex nasal ridge
Ectopia lentis

And another 3 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

Facial Dysmorphism-lens Dislocation-anterior Segment Abnormalities-spontaneous Filtering Blebs Syndrome Is also known as fdlab syndrome, ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism, traboulsi syndrome, facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts 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.

Facial Dysmorphism-lens Dislocation-anterior Segment Abnormalities-spontaneous Filtering Blebs Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4 , (...) View the complete list with 27 more genes Panel complete gene list RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4, RANGRF, TRPM4, SCN3B, GPD1L, DPP6, AKAP9, GJA5, ANK2, ABCC9, KCNA5, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, ASPH, NPPA, PKP2, PLN, PRKAG2 Specificity 3 % Genes 100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics (Portugal). BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1 Specificity 6 % Genes 100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics (Portugal). BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1 Specificity 6 % Genes 100 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). B3GLCT, COL4A1, CYP1B1, SH3PXD2B, FOXC1, FOXE3, ASPH, PAX6, PITX2 Specificity 12 % Genes 100 %
Ectopia Lentis. By MGZ Medical Genetics Center (Germany). ADAMTS10, CBS, ADAMTS17, ADAMTSL4, COL11A1, COL18A1, VCAN, FBN1, ASPH Specificity 12 % Genes 100 %
Eye Diseases - panels. By MGZ Medical Genetics Center (Germany). BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...) View the complete list with 146 more genes Panel complete gene list BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB Specificity 1 % Genes 100 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome. By MGZ Medical Genetics Center (Germany). B3GLCT, COL4A1, COL4A2, CYP1B1, MIR184, SLC38A8, EYA1, FOXC1, FOXE3, LTBP2, ASPH, MYOC, PAX6, PITX2 Specificity 8 % Genes 100 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis. By Asper Biogene Asper Biogene LLC (Estonia). BMP4, SIX6, SOX2, VAX1, VSX1, MFRP, RAX, VSX2, B3GLCT, SMOC1, CHD7, BCOR, COL4A1, CYP1B1, TENM3, STRA6, SLC38A8, EYA1, FOXC1, FOXE3 , (...) View the complete list with 15 more genes Panel complete gene list BMP4, SIX6, SOX2, VAX1, VSX1, MFRP, RAX, VSX2, B3GLCT, SMOC1, CHD7, BCOR, COL4A1, CYP1B1, TENM3, STRA6, SLC38A8, EYA1, FOXC1, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, HESX1, HMGB3, LTBP2, MAB21L2, ASPH, OTX2, PAX6, PITX2, RARB Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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