Bohring-opitz Syndrome

Description

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Bohring-opitz Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism

And another 119 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

Bohring-opitz Syndrome Is also known as c-like syndrome, bos syndrome, bohring syndrome, oberklaid-danks syndrome, opitz trigonocephaly-like syndrome.

Researches and researchers

Doctors, researchs, and experts related to Bohring-opitz Syndrome extracted from public data.

Bohring-opitz Syndrome Experts map



Current Researchs and researchers

  • BRISTOL — Dr Ruth A NEWBURY-ECOB

    Clinical expert - Investigator of research project

    • Institution/s:
      — University Hospitals Bristol, St Michael's Hospital
      — University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children
      — St Michael's Hospital
    • Research area/topic::

      Clinical and molecular genetics study of Bohring Opitz syndrome



Mendelian

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Bohring-opitz Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Juvenile Myelomonocytic Leukemia.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States).

CBL, SETBP1, RRAS2, ASXL1, SH2B3, JAK3, KRAS, NF1, NRAS, PTPN11
Specificity
10 %
Genes
50 %
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
50 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
50 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Cornelia de Lange Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SMC1A, HDAC8, ASXL1, ANKRD11, SMC3, NIPBL, ASXL3, RAD21
Specificity
13 %
Genes
50 %
Cornelia de Lange Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SMC1A, HDAC8, ASXL1, ANKRD11, SMC3, NIPBL, ASXL3, RAD21
Specificity
13 %
Genes
50 %
Cornelia de Lange Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SMC1A, HDAC8, ASXL1, ANKRD11, SMC3, NIPBL, ASXL3, RAD21
Specificity
13 %
Genes
50 %
Bohring-Opitz syndrome (sequence analysis of ASXL1 gene).

By CGC Genetics (Portugal).

ASXL1
Specificity
100 %
Genes
50 %

We have 70 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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