FGF16 gene related symptoms and diseases

All the information presented here about the FGF16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FGF16 gene

Symptoms // Phenotype % Cases
Syndactyly Very Common - Between 80% and 100% cases
Hernia Very Common - Between 80% and 100% cases
Inguinal hernia Very Common - Between 80% and 100% cases
Upslanted palpebral fissure Very Common - Between 80% and 100% cases
Hyperactivity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FGF16 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thin upper lip vermilion
  • Attention deficit hyperactivity disorder
  • Toe syndactyly
  • Triangular face
  • Split hand
  • Sandal gap
  • Ectrodactyly
  • Hydrocele testis

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FGF16 gene

Here you will find a list of rare diseases related to the FGF16. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SYNDACTYLY TYPE 8


Alternate names

SYNDACTYLY TYPE 8 Is also known as fusion of metacarpals 4 and 5

Description

Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

Most common symptoms of SYNDACTYLY TYPE 8

  • Syndactyly
  • Hernia
  • Inguinal hernia
  • Upslanted palpebral fissure
  • Hyperactivity


More info about SYNDACTYLY TYPE 8

SOURCES: MESH OMIM ORPHANET


Potential gene panels for FGF16 gene

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

FGF16 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FGF16 gene.

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like S1PR2 CR2 CISD2 THOC6 FBN1

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