Hypertension And Brachydactyly Syndrome; Htnb

Description

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

Clinical Features

Phenotypes and symptoms related to Hypertension And Brachydactyly Syndrome; Htnb

  • Short stature
  • Brachydactyly
  • Hypertension
  • Retinopathy
  • Stroke
  • Short metacarpal
  • Short phalanx of finger
  • Cone-shaped epiphysis
  • Proportionate short stature
  • Hypertensive retinopathy

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypertension And Brachydactyly Syndrome; Htnb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PDE3A
Specificity
100 %
Genes
100 %
Hypertension.

By Institute of Human Genetics Cologne University in Germany.

SDHAF2, SDHC, SDHB, CYP17A1, SDHA, SDHD, WNK1, HSD11B2, SCNN1A, SCNN1G, KCNJ5, NR3C2, KLHL3, CUL3, WNK4, PDE3A
Specificity
7 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
PDE3A.

By Fulgent Genetics Fulgent Genetics in United States.

PDE3A
Specificity
100 %
Genes
100 %
Hypertension and Brachydactyly Syndrome , Sequencing PDE3A Gene.

By Reference Laboratory Genetics in Spain.

PDE3A
Specificity
100 %
Genes
100 %

Alternate names

Hypertension And Brachydactyly Syndrome; Htnb Is also known as brachydactyly with hypertension, brachydactyly, type e, with short stature and hypertension, bilginturan syndrome;bilginturan brachydactyly; bilginturan syndrome; brachydactyly type e, with short stature and hypertension.


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