GDF5 gene related symptoms and diseases

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

SOURCES: ORPHANET OMIM MESH

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

SOURCES: ORPHANET

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM

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

SOURCES: OMIM

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: MESH OMIM ORPHANET

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

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

SOURCES: OMIM

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

SOURCES: ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

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

SOURCES: OMIM MESH

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.

SOURCES: OMIM