Frank-ter Haar Syndrome

Description

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

Clinical Features

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

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Flexion contracture
  • High palate

And another 94 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

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

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.


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Frank-ter Haar Syndrome 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 (United States).

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

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

By CGC Genetics (Portugal).

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

By PreventionGenetics PreventionGenetics (United States).

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

By PreventionGenetics PreventionGenetics (United States).

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

By Centogene AG - the Rare Disease Company (Germany).

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

By CeGaT GmbH (Germany).

SALL1, SF3B4, TBCE, TBX15, TBX3, TBX5, NIN, SALL4, PCNT, ORC6, CENPJ, CDC6, CDKN1C, CUL7, CREBBP, POC1A, CDT1, FAM111A, LARP7, CCDC8 , (...)

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

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

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

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

RPS19, SLC4A4, TTR, BEST1, RPGRIP1, CA4, ACVR1, OPTN, ASB10, OLFM2, RRM2B, MFRP, CANT1, VSX2, SBF2, COL18A1, COL8A2, CYP1B1, SH3PXD2B, WDR36 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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