Popliteal Pterygium Syndrome, Lethal Type

Description

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Popliteal Pterygium Syndrome, Lethal Type

  • Intellectual disability
  • Short stature
  • Pica
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
And another 78 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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Popliteal Pterygium Syndrome, Lethal Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

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

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
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
100 %
RIPK4. Complete sequencing.

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

RIPK4
Specificity
100 %
Genes
100 %
Bartsocas-Papas syndrome (sequence analysis of RIPK4 gene).

By CGC Genetics in Portugal.

RIPK4
Specificity
100 %
Genes
100 %
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RIPK4
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
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 %
Popliteal pterygium syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

RIPK4, IRF6
Specificity
50 %
Genes
100 %
Popliteal pterygium syndrome NGS test.

By Connective Tissue Gene Tests in United States.

RIPK4, IRF6
Specificity
50 %
Genes
100 %
Popliteal pterygium syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

RIPK4, IRF6
Specificity
50 %
Genes
100 %
Popliteal pterygium syndrome, lethal type.

By Centogene AG - the Rare Disease Company in Germany.

RIPK4
Specificity
100 %
Genes
100 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Bartsocas-Papas, Syndrome: RIPK4 gene sequence analysis.

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

RIPK4
Specificity
100 %
Genes
100 %
RIPK4.

By Fulgent Genetics Fulgent Genetics in United States.

RIPK4
Specificity
100 %
Genes
100 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Bartsocas-Papas syndrome.

By Bioarray in Spain.

RIPK4
Specificity
100 %
Genes
100 %
Bartsocas-Papas Syndrome, Sequencing RIPK4 Gene.

By Reference Laboratory Genetics in Spain.

RIPK4
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 %

Alternate names

Popliteal Pterygium Syndrome, Lethal Type Is also known as bartsocas-papas syndrome;bps, pterygium, popliteal, lethal type, multiple pterygium syndrome, aslan type;autosomal recessive popliteal pterygium syndrome; lethal popliteal pterygium syndrome.


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