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  3. GDF5OS

GDF5OS gene related symptoms and diseases

All the information presented here about the GDF5OS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to GDF5OS gene

Symptoms // Phenotype % Cases
Brachydactyly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Short middle phalanx of finger Common - Between 50% and 80% cases
Short 1st metacarpal Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GDF5OS gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Short middle phalanx of the 5th finger
  • Clinodactyly of the 5th finger
  • Fibular hypoplasia
  • Tarsal synostosis
  • Short metatarsal
  • Short 2nd finger
  • Ulnar deviation of the 2nd finger
  • Triangular shaped middle phalanx of the 2nd finger

And 92 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GDF5OS gene

Here you will find a list of rare diseases related to the GDF5OS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

Alternate names

FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME Is also known as du pan syndrome

Description

Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

Most common symptoms of FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

  • Short stature
  • Brachydactyly
  • Syndactyly
  • Severe short stature
  • Finger syndactyly


More info about FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

SOURCES: ORPHANET OMIM MESH

BRACHYDACTYLY TYPE A2

Alternate names

BRACHYDACTYLY TYPE A2 Is also known as brachydactyly, mohr-wriedt type, brachymesophalangy ii, mohr-wriedt type brachydactyly

Description

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

Most common symptoms of BRACHYDACTYLY TYPE A2

  • Short stature
  • Brachydactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Short foot


More info about BRACHYDACTYLY TYPE A2

SOURCES: OMIM ORPHANET MESH

BRACHYDACTYLY TYPE C

Alternate names

BRACHYDACTYLY TYPE C Is also known as brachydactyly, haws type

Description

Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

Most common symptoms of BRACHYDACTYLY TYPE C

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Delayed skeletal maturation
  • Clinodactyly of the 5th finger


More info about BRACHYDACTYLY TYPE C

SOURCES: MESH OMIM ORPHANET

BRACHYDACTYLY, TYPE A1, C; BDA1C

Most common symptoms of BRACHYDACTYLY, TYPE A1, C; BDA1C

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Short distal phalanx of finger
  • Bilateral talipes equinovarus


More info about BRACHYDACTYLY, TYPE A1, C; BDA1C

SOURCES: OMIM

MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

  • Brachydactyly
  • Talipes equinovarus
  • Wide nose
  • Vertebral fusion
  • Tarsal synostosis


More info about MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

SOURCES: OMIM MESH



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