COL2A1 gene related symptoms and diseases

Alternate names

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia, semd, strudwick type, smed, type i, spondylometaepiphyseal dysplasia congenita, strudwick type, semdc, smd, smed, strudwick type, strudwick syndrome, dappled metaphysis syndrome

Description

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Most common symptoms of SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

• Intellectual disability
• Short stature
• Scoliosis
• Hypertelorism
• Cleft palate

SOURCES: OMIM ORPHANET

Description

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Most common symptoms of KNIEST DYSPLASIA

• Short stature
• Hearing impairment
• Scoliosis
• Micrognathia
• Cleft palate

SOURCES: OMIM ORPHANET MESH

SOURCES: ORPHANET

Alternate names

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Description

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

Most common symptoms of ACHONDROGENESIS TYPE 2

• Micrognathia
• Macrocephaly
• Frontal bossing
• Anteverted nares
• Short neck

SOURCES: ORPHANET

Alternate names

LEGG-CALVÉ-PERTHES DISEASE Is also known as legg-perthes disease, osteochondrosis of the capital femoral epiphysis, perthes disease, aseptic necrosis of the capital femoral epiphysis, lcp, osteochondritis of the capital femoral epiphysis

Description

Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

Most common symptoms of LEGG-CALVÉ-PERTHES DISEASE

• Short stature
• Pain
• Skeletal muscle atrophy
• Abnormality of the dentition
• Depressivity

SOURCES: ORPHANET MESH OMIM

Alternate names

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia, spranger-wiedemann disease, sedc

Description

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

Most common symptoms of SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

• Short stature
• Hearing impairment
• Scoliosis
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET

Alternate names

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita, spondyloepiphyseal dysplasia, congenital type

Description

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

Most common symptoms of SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment
• Scoliosis

SOURCES: OMIM MESH ORPHANET

Most common symptoms of STICKLER SYNDROME TYPE 1

• Intellectual disability
• Sensorineural hearing impairment
• Cleft palate
• Cataract
• Myopia

SOURCES: ORPHANET

Alternate names

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia, heterozygous osmed, pierre robin sequence-fetal chondrodysplasia syndrome, pierre robin syndrome-fetal chondrodysplasia syndrome

Description

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

Most common symptoms of WEISSENBACHER- ZWEYMULLER SYNDROME

• Hypertelorism
• Micrognathia
• Muscular hypotonia
• Cleft palate
• Delayed speech and language development

SOURCES: ORPHANET

Alternate names

SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE Is also known as spondylometaphyseal dysplasia, schmidt type, spondylometaphyseal dysplasia with severe genu valgum, spondylometaphyseal dysplasia, algerian type

Description

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

Most common symptoms of SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE

• Short stature
• Myopia
• Severe short stature
• Kyphoscoliosis
• Platyspondyly

SOURCES: OMIM MESH ORPHANET

Alternate names

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type, thanatophoric dysplasia, torrance variant, lethal short-limbed platyspondylic dwarfism, torrance type, platyspondylic lethal skeletal dysplasia, torrance type, plsd-t

Description

Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

Most common symptoms of PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

• Cleft palate
• Low-set ears
• Depressed nasal bridge
• Macrocephaly
• Short neck

SOURCES: OMIM MESH ORPHANET

Alternate names

SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE Is also known as spondylometaphyseal dysplasia, sutcliffe type

Description

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Most common symptoms of SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

• Short stature
• Scoliosis
• Gait disturbance
• Kyphosis
• Kyphoscoliosis

SOURCES: OMIM MESH ORPHANET

Alternate names

SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME Is also known as spondyloperipheral dysplasia with short ulna

Description

Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.

Most common symptoms of SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME

• Intellectual disability
• Short stature
• Hearing impairment
• Sensorineural hearing impairment
• Brachydactyly

SOURCES: OMIM ORPHANET MESH

Alternate names

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes, spondyloepiphyseal dysplasia with precocious osteoarthritis, czech dysplasia, metatarsal type

Description

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

Most common symptoms of CZECH DYSPLASIA, METATARSAL TYPE

• Hearing impairment
• Scoliosis
• Sensorineural hearing impairment
• Cleft palate
• Pain

SOURCES: MESH ORPHANET OMIM

Alternate names

FAMILIAL AVASCULAR NECROSIS OF FEMORAL HEAD Is also known as familial osteonecrosis of the femoral head

Description

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.

Most common symptoms of FAMILIAL AVASCULAR NECROSIS OF FEMORAL HEAD

• Pain
• Arthralgia
• Aseptic necrosis
• Hypercoagulability
• Hip pain

SOURCES: OMIM ORPHANET

Alternate names

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Description

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

Most common symptoms of MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

• Short stature
• Hearing impairment
• Cataract
• Brachydactyly
• Myopia

SOURCES: MESH OMIM ORPHANET

Alternate names

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia, nhd

Description

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

Most common symptoms of MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

• Intellectual disability
• Short stature
• Pain
• Congestive heart failure
• Pneumonia

SOURCES: OMIM ORPHANET MESH

Alternate names

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Description

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

Most common symptoms of SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

• Hearing impairment
• Scoliosis
• Muscle weakness
• Pain
• Flexion contracture

SOURCES: OMIM ORPHANET

Alternate names

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular, stickler syndrome, atypical

Description

Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

Most common symptoms of AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

• Hearing impairment
• Cleft palate
• Cataract
• Visual impairment
• Epicanthus

SOURCES: OMIM ORPHANET

Description

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.

Most common symptoms of DYSSPONDYLOENCHONDROMATOSIS

• Intellectual disability
• Short stature
• Scoliosis
• Delayed skeletal maturation
• Kyphoscoliosis

SOURCES: ORPHANET