Rapadilino Syndrome

Description

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Clinical Features

Top most frequent phenotypes and symptoms related to Rapadilino Syndrome

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate
  • Diarrhea
  • Blepharophimosis
  • Long face
  • High, narrow palate
  • Short chin

And another 12 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.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Rapadilino Syndrome extracted from public data.

Rapadilino Syndrome Experts map



Current Researchs and researchers

  • HELSINKI — Pr Helena KÄÄRIÄINEN

    Investigator of research project

    • Institution/s:
      — National Institute for Health and Welfare
    • Research area/topic::

      RAPADILINO syndrome: clinical and genetic study



Mendelian

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Rapadilino Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RECQL4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RECQL4
Specificity
100 %
Genes
100 %
RECQL4 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

RECQL4
Specificity
100 %
Genes
100 %
RECQL4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RECQL4
Specificity
100 %
Genes
100 %
NGS Craniosynostosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
RECQL4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

RECQL4
Specificity
100 %
Genes
100 %

We have 85 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD

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