Donnai-barrow Syndrome

Description

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

Clinical Features

Top most frequent phenotypes and symptoms related to Donnai-barrow Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cataract
  • Low-set ears
  • Depressed nasal bridge

And another 49 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.)
— The onset for some of the known clinical features related to this disease may vary, including onset .

Alternative names

Donnai-barrow Syndrome Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness, diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria, foar syndrome, facio-oculo-acoustico-renal syndrome, diaphragmatic her.

Researches and researchers

Doctors, researchs, and experts related to Donnai-barrow Syndrome extracted from public data.

Donnai-barrow Syndrome Experts map



Current Researchs and researchers

  • BERLIN — Dr Annette HAMMES-LEWIN

    Investigator of research project

    • Institution/s:
      — Max-Delbrück-Centrum für Molekulare Medizin
    • Research area/topic::

      Developmental Disturbances in the Nervous System (SFB 665): Molecular pathways in forebrain development and holoprosencephaly


  • BERLIN — Pr Thomas WILLNOW

    Investigator of research project

    • Institution/s:
      — Max-Delbrück-Centrum für Molekulare Medizin
    • Research area/topic::

      Developmental Disturbances in the Nervous System (SFB 665): Molecular pathways in forebrain development and holoprosencephaly



Mendelian

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Donnai-barrow Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-Specific Intellectual Disability Panel.

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

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Autosomal Recessive Non-Specific Intellectual Disability Panel.

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

ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
LRP2 sequencing.

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

LRP2
Specificity
100 %
Genes
100 %
LRP2 deletion/duplication.

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

LRP2
Specificity
100 %
Genes
100 %
Donnai-Barrow syndrome (sequence analysis of LRP2 gene).

By CGC Genetics (Portugal).

LRP2
Specificity
100 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 %
Donnai Barrow syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

LRP2
Specificity
100 %
Genes
100 %

We have 14 more panels available in our App

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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 WAARDENBURG-SHAH SYNDROME PSEUDOHYPOPARATHYROIDISM TYPE 1A JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA HYPERKALEMIC PERIODIC PARALYSIS

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