Frank-ter Haar Syndrome; Fths

Description

The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004).Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Frank-ter Haar Syndrome; Fths

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Motor delay
  • Flexion contracture
  • Low-set ears
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Incidence and onset information

Not enough data available about incidence and published cases.


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Frank-ter Haar Syndrome; Fths Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel.

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

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Frank-ter Haar syndrome (sequence analysis of SH3PXD2B gene).

By CGC Genetics in Portugal.

SH3PXD2B
Specificity
100 %
Genes
100 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, FOXC1, PITX2, CYP1B1, COL4A1, FOXE3, SH3PXD2B, B3GLCT, ASPH
Specificity
12 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OPTN, FOXC1, PITX2, MFRP, CYP1B1, LMX1B, MYOC, COL4A1, LTBP2, SLC4A4, SH3PXD2B, WDR36, COL8A2, ATOH7, OPTC, COL8A1
Specificity
6 %
Genes
100 %
Frank-ter Haar syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SH3PXD2B
Specificity
100 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Glaucoma.

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

PAX6, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RPGRIP1, MYOC, ASB10, LTBP2, SH3PXD2B, VSX2, PRSS56, WDR36, COL8A2, OPTC, NTF4, LOXL1, OLFM2
Specificity
6 %
Genes
100 %
Glaucoma (Advance).

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

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
SH3PXD2B.

By Fulgent Genetics Fulgent Genetics in United States.

SH3PXD2B
Specificity
100 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RPGRIP1, MYOC, ASB10, LTBP2, SH3PXD2B, VSX2, PRSS56, WDR36, COL8A2, NTF4, LOXL1
Specificity
6 %
Genes
100 %

Alternate names

Frank-ter Haar Syndrome; Fths Is also known as ter haar syndrome, borrone dermatocardioskeletal syndrome, melnick-needles syndrome, autosomal recessive, formerly;ter haar syndrome.



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