Baller-gerold Syndrome

Description

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

Clinical Features

Top most frequent phenotypes and symptoms related to Baller-gerold Syndrome

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus
  • Micrognathia
  • Strabismus

And another 103 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

Baller-gerold Syndrome Is also known as craniosynostosis-radial aplasia syndrome, craniosynostosis with radial defects.

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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Baller-gerold 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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 OCULOAURICULAR SYNDROME; OCACS LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL

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