Bohring-opitz Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Bohring-opitz Syndrome

ASXL1
KLHL7

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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

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 Panel complete gene list SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1, MSX2, POR, RECQL4 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 Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 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 Panel complete gene list RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, SMAD6, MSX2, POR, RECQL4 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 %

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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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