GDF5 gene related symptoms and diseases
All the information presented here about the GDF5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GDF5 gene
Symptoms // Phenotype | % Cases |
---|---|
Brachydactyly | Very Common - Between 80% and 100% cases |
Short stature | Common - Between 50% and 80% cases |
Short middle phalanx of finger | Uncommon - Between 30% and 50% cases |
Short foot | Uncommon - Between 30% and 50% cases |
Talipes equinovarus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GDF5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Short 1st metacarpal
- Fibular hypoplasia
- Tarsal synostosis
Rarely - Less than 30% cases
- Clinodactyly of the 5th finger
- Cone-shaped epiphysis
- Elbow dislocation
- Short tibia
- Hypoplasia of the ulna
And 261 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GDF5 gene
Here you will find a list of rare diseases related to the GDF5. 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
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
Alternate names
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism
Description
Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.
Most common symptoms of ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
- Scoliosis
- Cognitive impairment
- Brachydactyly
- Joint stiffness
- Neurological speech impairment
More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
SOURCES: ORPHANET
ACROMESOMELIC DYSPLASIA, GREBE TYPE
Alternate names
ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria, chondrodysplasia, grebe type
Description
Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.
Most common symptoms of ACROMESOMELIC DYSPLASIA, GREBE TYPE
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH
Alternate names
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH Is also known as acromesomelic dwarfism
Description
The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).
Most common symptoms of ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH
- Short stature
- Abnormality of the skeletal system
- Severe short stature
- Scarring
- Corneal opacity
More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH
SOURCES: OMIM
CHONDRODYSPLASIA, GREBE TYPE
Alternate names
CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia, grebe dysplasia, achondrogenesis, brazilian, acromesomelic dysplasia, grebe type, amdg, achondrogenesis, type ii, formerly
Description
Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).
Most common symptoms of CHONDRODYSPLASIA, GREBE TYPE
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
More info about CHONDRODYSPLASIA, GREBE TYPE
SOURCES: OMIM
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
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
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
Alternate names
MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome, facio-audio-symphalangism, symphalangism-brachydactyly syndrome, deafness-hermann type symphalangism syndrome
Description
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME
- Brachydactyly
- Conductive hearing impairment
- Joint stiffness
- Facial asymmetry
- Short palm
More info about MULTIPLE SYNOSTOSES SYNDROME
SOURCES: ORPHANET
ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA
Alternate names
ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped
Description
Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
Most common symptoms of ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA
- Short stature
- Pain
- Brachydactyly
- Delayed skeletal maturation
- Joint hyperflexibility
More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA
BRACHYDACTYLY TYPE A1
Alternate names
BRACHYDACTYLY TYPE A1 Is also known as farabee-type brachydactyly, brachydactyly, farabee type
Description
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.
Most common symptoms of BRACHYDACTYLY TYPE A1
- Intellectual disability
- Short stature
- Scoliosis
- Brachydactyly
- Talipes equinovarus
More info about BRACHYDACTYLY TYPE A1
PROXIMAL SYMPHALANGISM
Alternate names
PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type
Description
Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Most common symptoms of PROXIMAL SYMPHALANGISM
- Strabismus
- Sensorineural hearing impairment
- Brachydactyly
- Clinodactyly of the 5th finger
- Pes planus
More info about PROXIMAL SYMPHALANGISM
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
OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5
Alternate names
OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5 Is also known as osteoarthritis of hip
Description
Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.
More info about OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5
SOURCES: OMIM
Search interest in GDF5
Potential gene panels for GDF5 gene
GDF5. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GDF5 gene.
More info about this panelChondrodysplasia, Grebe type (sequence analysis of GDF5 gene) Panel
By CGC Genetics
This panel specifically test the GDF5 gene.
More info about this panelAcromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene) Panel
By CGC Genetics
This panel specifically test the GDF5 gene.
More info about this panelChondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene) Panel
By CGC Genetics
This panel specifically test the GDF5 gene.
More info about this panelChondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene) Panel
By CGC Genetics
This panel specifically test the GDF5 gene.
More info about this panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
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 panelGDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GDF5 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelChondrodysplasia, Grebe Type Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GDF5 gene.
More info about this panelBrachydactyly Type C Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GDF5 gene.
More info about this panelAcromesomelic Dysplasia, Hunter-Thompson Type Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GDF5 gene.
More info about this panelGDF5 (CDMP1)-related disorders Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the GDF5 gene.
More info about this panelChondrodysplasia, Grebe Type Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the GDF5 gene.
More info about this panelFibular Hypoplasia and Complex Brachydactyly Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the GDF5 gene.
More info about this panelMicromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panelPotentially lethal skeletal disorders Panel Panel
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panelIsolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
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 panelDisproportionate Short Stature: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panelLimb Malformation: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panelSkeletal Dysplasias NGS panel Panel
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 panelGDF5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GDF5 gene.
More info about this panelBrachydactyly / Syndactyly Panel Panel
By Blueprint Genetics Brachydactyly / Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TP63 CHSY1 ESCO2 CCNQ DHCR7 GDF5
More info about this panelCraniosynostosis Panel Panel
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelMicromelic Dysplasia Panel Panel
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panelLimb Malformations Panel Panel
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelFibular aplasia - complex brachydactyly Panel
By Bioarray
This panel specifically test the GDF5 gene.
More info about this panelBRACHYDACTYLY TYPE A1 Panel
By Laboratorio de Genetica Clinica SL BRACHYDACTYLY TYPE A1 that also includes the following genes: GDF5 IHH
More info about this panelBRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE) Panel
By Laboratorio de Genetica Clinica SL BRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE) that also includes the following genes: BMP2 BMPR1B GDF5
More info about this panelSYNOSTOSIS, MULTIPLE Panel
By Laboratorio de Genetica Clinica SL SYNOSTOSIS, MULTIPLE that also includes the following genes: FGF9 GDF5 NOG
More info about this panelBRACHYDACTYLY TYPE C Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GDF5 gene.
More info about this panelDu Pan Syndrome, Sequencing GDF5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GDF5 gene.
More info about this panelMultiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TTR FGF9 FLNB GDF5 HOXA11 NOG
More info about this panelBrachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes Panel
By Reference Laboratory Genetics Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes that also includes the following genes: BMP2 BMPR1B GDF5
More info about this panelBrachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TBX15 WNT7A TP63 CHSY1 ESCO2 GDF5
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