Multiple Synostoses Syndrome 1 Latest Advances

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 14, 2025

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Journal: American journal of medical genetics. Part A

Published: June 01, 2025

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Journal: Molecular syndromology

Published: March 05, 2025

Rare features in Feingold syndrome type 1.

Journal: European journal of medical genetics

Published: November 19, 2024

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification.

Journal: JPRAS open

Published: November 12, 2024

Polybrachysyndactyly in all 4 extremities: Case report.

Journal: International journal of surgery case reports

Published: May 31, 2024

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Journal: Clinical medicine insights. Case reports

Published: May 24, 2024

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

Journal: Journal of pediatric orthopedics

Published: April 26, 2024

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Journal: Iranian journal of public health

Published: February 10, 2024

A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.

Journal: Phenomics (Cham, Switzerland)

Published: December 07, 2023

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Journal: Hormones (Athens, Greece)

Published: September 16, 2023

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 29, 2023

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Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Rare features in Feingold syndrome type 1.

Rare features in Feingold syndrome type 1.

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification.

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification.

Polybrachysyndactyly in all 4 extremities: Case report.

Polybrachysyndactyly in all 4 extremities: Case report.

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.

A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1