FBLN1 gene related symptoms and diseases

All the information presented here about the FBLN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FBLN1 gene

Symptoms // Phenotype % Cases
Syndactyly Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Tarsal synostosis Uncommon - Between 30% and 50% cases
Carpal synostosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FBLN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Metacarpal synostosis
  • Metatarsal synostosis

Rare diseases associated to FBLN1 gene

Here you will find a list of rare diseases related to the FBLN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SYNPOLYDACTYLY TYPE 2

Alternate names

SYNPOLYDACTYLY TYPE 2 Is also known as spd2, spd, debeer type, sd2, debeer type, synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, sd2b, synpolydactyly, debeer type

Most common symptoms of SYNPOLYDACTYLY TYPE 2

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis


More info about SYNPOLYDACTYLY TYPE 2

SOURCES: ORPHANET MESH OMIM

FBLN1-RELATED DEVELOPMENTAL DELAY-CENTRAL NERVOUS SYSTEM ANOMALY-SYNDACTYLY SYNDROME

Description

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.


More info about FBLN1-RELATED DEVELOPMENTAL DELAY-CENTRAL NERVOUS SYSTEM ANOMALY-SYNDACTYLY SYNDROME

SOURCES: ORPHANET


Potential gene panels for FBLN1 gene

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel
United States.

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel
United States.

Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel

Germany.

By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1

More info about this panel
Germany.

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel
United States.

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel
United States.

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel
United States.

FBLN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FBLN1 gene.

More info about this panel
United States.

SYNDACTYLY TYPE 2 (SINPOLYDACTYLY) Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDACTYLY TYPE 2 (SINPOLYDACTYLY) that also includes the following genes: FBLN1 HOXD13

More info about this panel
Spain.

Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes Panel

Spain.

By Reference Laboratory Genetics Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes that also includes the following genes: FBLN1 HOXD13

More info about this panel
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NRAS MAOA UMOD GNE A2M SMAD6 KIZ