Tibial Hemimelia-polysyndactyly-triphalangeal Thumb Syndrome

Description

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.

Clinical Features

Top most frequent phenotypes and symptoms related to Tibial Hemimelia-polysyndactyly-triphalangeal Thumb Syndrome

  • Short stature
  • Cryptorchidism
  • Talipes equinovarus
  • Syndactyly
  • Abnormal heart morphology
  • Polydactyly
  • Confusion
  • Postaxial polydactyly
  • Aganglionic megacolon
  • Cutaneous syndactyly

And another 16 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

Tibial Hemimelia-polysyndactyly-triphalangeal Thumb Syndrome Is also known as absent tibia-polydactyly syndrome, tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia.

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.

Tibial Hemimelia-polysyndactyly-triphalangeal Thumb Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH (Germany).

ROR2, BMP2, BMPR1B, WNT10B, WNT7A, LMBR1, TP63, TRPV4, BHLHA9, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LRP4, NOG, PTHLH
Specificity
5 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %

You can get up to 4 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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