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Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal dysplasia congenita
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Genetic disorders
(35)
Fibrochondrogenesis
Atelosteogenesis, type II
Raine syndrome
Boomerang dysplasia
Spondyloep- imetaphyseal dysplasia, Strudwick type
Spondyloep- imetaphyseal dysplasia, Strudwick type
Otospondyl- omegaepiphyseal dysplasia
Hypochondrogenesis
Antley-bixler syndrome
Spondyloperipheral dysplasia
Kniest dysplasia
Hypochondroplasia
Collagenopathy, types II and XI
Pseudoacho- ndroplasia
Multiple epiphyseal dysplasia
Diastrophic dysplasia
Thanatophoric dysplasia
Achondroplasia
Chondrodystrophy
Hereditary multiple exostoses
Laminopathy
Buschke-Ollendorff syndrome
Spinal and bulbar muscular atrophy
SADDAN
Stickler syndrome
Ellis-van creveld syndrome
Ehlers Danlos Syndrome
Ectrodactyly
22q11.2 deletion syndrome
Alport syndrome
Fibrous dysplasia
McCune Albright syndrome
Pfeiffer syndrome
Osteogenesis imperfecta
Osteopetrosis
Spinal muscular atrophy
more...
Diseases and disorders
(48)
Chondrodysplasia punctata, rhizomelic
Achondrogenesis type 2
Schmid metaphyseal chondrodysplasia
Osteochondropathy
Chondromatous
Chondromatous
Short rib-polydactyly syndrome
Osteochond- rodysplasia
Metaphyseal dysplasia
Osteopoikilosis
Ollier disease
Camurati engelmann disease
Severe achondroplasia with developmental delay and acanthosis nigricans
Dwarfism
Chondrodysplasia punctata
Spondyloepiphyseal dysplasia tarda
Atelosteogenesis type 2
Alzheimer disease type 2
Maffucci syndrome
Skeletal dysplasias
Enchondromatosis
Juvenile osteochondrosis
Scoliosis
Lordosis
Fibrochondrogenesis
Raine syndrome
Boomerang dysplasia
Spondyloep- imetaphyseal dysplasia, Strudwick type
Hypochondrogenesis
Kniest dysplasia
Hypochondroplasia
Pseudoacho- ndroplasia
Multiple epiphyseal dysplasia
Diastrophic dysplasia
Thanatophoric dysplasia
Achondroplasia
Chondrodystrophy
Hereditary multiple exostoses
Spinal and bulbar muscular atrophy
Stickler syndrome
Ellis-van creveld syndrome
Ehlers Danlos Syndrome
Ectrodactyly
22q11.2 deletion syndrome
Alport syndrome
Fibrous dysplasia
Osteogenesis imperfecta
Osteopetrosis
Spinal muscular atrophy
more...
Autosomal recessive disorders
(8)
Fibrochondrogenesis
Atelosteogenesis, type II
Raine syndrome
Otospondyl- omegaepiphyseal dysplasia
Antley-bixler syndrome
Antley-bixler syndrome
Diastrophic dysplasia
Chondrodystrophy
Ellis-van creveld syndrome
more...
Rare diseases
(11)
Fibrochondrogenesis
Atelosteogenesis, type II
Raine syndrome
Boomerang dysplasia
Antley-bixler syndrome
Antley-bixler syndrome
Multiple epiphyseal dysplasia
Thanatophoric dysplasia
Hereditary multiple exostoses
Stickler syndrome
Ectrodactyly
Osteopetrosis
more...
Congenital disorders
Achondrogenesis type 1B
Achondrogenesis
Congenital
Fibrochondrogenesis
Achondrogenesis type 2
Buschke-Ollendorff syndrome
Ehlers Danlos Syndrome
Syndromes
(12)
Deformities
Raine syndrome
Antley-bixler syndrome
Laminopathy
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome
Maffucci syndrome
Stickler syndrome
Ellis-van creveld syndrome
Ehlers Danlos Syndrome
22q11.2 deletion syndrome
Alport syndrome
Pfeiffer syndrome
more...
Skeletal disorders
(11)
Kyphoscoliosis
Kyphosis
Kniest dysplasia
Ollier disease
Chondrodystrophy
Chondrodystrophy
Hereditary multiple exostoses
Juvenile osteochondrosis
Fibrous dysplasia
Osteogenesis imperfecta
Scoliosis
Lordosis
more...
Skeletal system
Osseous
Bone growth
Cartilage
Hypochondroplasia
Skeletal disorders
Human height
Short stature
People with dwarfism
Dwarfism
See also
(11)
COL2A1 gene
Keratinopathy
Dysplasia
Scleroprotein
SLC26A2
SLC26A2
Type II collagen
Short limbs
FGFR3
Am. J. Med. Genet.
Atlantoaxial
PMID
more...
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