Van Maldergem Syndrome 1; Vmlds1

Description

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

Clinical Features

Top most frequent phenotypes and symptoms related to Van Maldergem Syndrome 1; Vmlds1

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Sensorineural hearing impairment
And another 57 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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Van Maldergem Syndrome 1; Vmlds1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
FAT4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FAT4
Specificity
100 %
Genes
50 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
FAT4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

FAT4
Specificity
100 %
Genes
50 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics in Portugal.

FMR1, ARFGEF2, FLNA, FAT4, NEDD4L, ERMARD, LRP2, DCHS1
Specificity
25 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics in Portugal.

FMR1, ARFGEF2, FLNA, FAT4, NEDD4L, ERMARD, LRP2, DCHS1
Specificity
25 %
Genes
100 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJC2, GATA2, FOXC2, PIEZO1, FAT4, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4, GJA1
Specificity
9 %
Genes
50 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
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
50 %
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
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
100 %
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
100 %
Hennekam lymphangiectasia-lymphedema syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

FAT4
Specificity
100 %
Genes
50 %
Van Maldergem syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

FAT4
Specificity
100 %
Genes
50 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

GJC2, GATA2, ENG, KRIT1, CCM2, PDCD10, TREX1, FOXC2, FAT4, RASA1, SOX18, CCBE1, ACVRL1, GDF2, VEGFC, KIF11, FLT4, SERPING1
Specificity
6 %
Genes
50 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
50 %
Primary lymphedema and Hydrops fetalis.

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

RAF1, GJC2, HRAS, IKBKG, KRAS, NRAS, PTPN11, SOS1, GATA2, HGF, FOXC2, PIEZO1, FAT4, RASA1, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
FAT4.

By Fulgent Genetics Fulgent Genetics in United States.

FAT4
Specificity
100 %
Genes
50 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
50 %
Lymphatic Malformations and Related Disorders Panel.

By Blueprint Genetics in Finland.

GJC2, GATA2, FOXC2, PIEZO1, FAT4, RASA1, SOX18, CCBE1, KIF11, FLT4, PIK3CA
Specificity
10 %
Genes
50 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, ATM, CDKN2A, BTK, GRIN2A, KMT2D, FAT4, NOTCH1, EZH2, ABCC9, SMARCA4, TET2, MYD88, PIK3CD, SI, POT1, NSD2, KDR, PLCG2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
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
50 %
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DCHS1
Specificity
100 %
Genes
50 %
Van Maldergem syndrome 1 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

DCHS1
Specificity
100 %
Genes
50 %
Van Maldergem syndrome 1 NGS Test.

By Connective Tissue Gene Tests in United States.

DCHS1
Specificity
100 %
Genes
50 %
Mitral valve prolapse 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

DCHS1
Specificity
100 %
Genes
50 %
Mitral valve prolapse 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

DCHS1
Specificity
100 %
Genes
50 %
Van Maldergem syndrome 1 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

DCHS1
Specificity
100 %
Genes
50 %
Mitral valve prolapse 2 NGS Test.

By Connective Tissue Gene Tests in United States.

DCHS1
Specificity
100 %
Genes
50 %
DCHS1.

By Fulgent Genetics Fulgent Genetics in United States.

DCHS1
Specificity
100 %
Genes
50 %

Alternate names

Van Maldergem Syndrome 1; Vmlds1 Is also known as cerebrofacioarticular syndrome;van maldergem syndrome.



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