Craniosynostosis, Boston Type

Table of contents:

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

Description

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

Genes related to Craniosynostosis, Boston Type

MSX2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Craniosynostosis, Boston Type

Seizures
Brachydactyly
Myopia
Downslanted palpebral fissures
Frontal bossing
Headache
Brachycephaly
Craniosynostosis
Dolichocephaly
Hypermetropia

And another 16 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Craniosynostosis, Boston Type Is also known as csb, warman-mulliken-hayward syndrome, craniosynostosis, warman type, craniosynostosis, boston-type.

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.

Craniosynostosis, Boston Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 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 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 Panel complete gene list RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, FLNA, GLI3, ALX3, ALX4, IL11RA, MSX2, POR, RECQL4 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 Panel complete gene list RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, FLNA, GLI3, ALX3, ALX4, IL11RA, MSX2, POR, RECQL4 Specificity 4 % Genes 100 %
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 100 %
MSX2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). MSX2 Specificity 100 % Genes 100 %
Craniosynostosis Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4 Specificity 6 % Genes 100 %
Craniofacial Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...) View the complete list with 22 more genes Panel complete gene list RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D, CHD7, MIR17HG, DHODH, SPECC1L, WDR35, IFT43, EFTUD2, EFNB1, MEGF8, ERF, EVC, EYA1, GLI3, ALPL, ALX3, ALX4, MSX2, MYCN, PLCB4, POR, PRKAR1A, RECQL4 Specificity 3 % Genes 100 %

You can get up to 33 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOFIBROMATOSIS, INFANTILE, 2; IMF2 NEPHRONOPHTHISIS 16; NPHP16 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS AUTISM, SUSCEPTIBILITY TO, 17; AUTS17 ATYPICAL TERATOID RHABDOID TUMOR