Scoliosis, and Platyspondyly

Diseases related with Scoliosis and Platyspondyly

In the following list you will find some of the most common rare diseases related to Scoliosis and Platyspondyly that can help you solving undiagnosed cases.


Top matches:

Low match SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3


Related symptoms:

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

Low match OSTEOGENESIS IMPERFECTA, TYPE XV; OI15


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7


Related symptoms:

  • Scoliosis
  • Platyspondyly
  • Joint dislocation
  • Genu varum
  • Abnormality of the hand


SOURCES: OMIM MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match AUTOSOMAL DOMINANT BRACHYOLMIA


Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

AUTOSOMAL DOMINANT BRACHYOLMIA Is also known as brachyrachia|brachyolmia type 3|brachyolmia, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Short neck
  • Kyphosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT BRACHYOLMIA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT


SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT Is also known as spondyloepiphyseal dysplasia, late|sed tarda, x-linked

Related symptoms:

  • Short stature
  • Scoliosis
  • Short neck
  • Kyphosis
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

Low match SPONDYLOEPIPHYSEAL DYSPLASIA TARDA


Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Abnormality of the skeletal system
  • Short neck


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

Low match SPONDYLOENCHONDRODYSPLASIA


Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE


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.

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE


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).

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

Low match OSTEOGENESIS IMPERFECTA TYPE 4


Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 4 Is also known as osteogenesis imperfecta with normal sclerae|oi type 4|oi, type iv

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Kyphosis
  • Bruising susceptibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 4

Top 5 symptoms//phenotypes associated to Scoliosis and Platyspondyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Lumbar hyperlordosis Uncommon - Between 30% and 50% cases
Short femoral neck Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Scoliosis and Platyspondyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coxa vara Micromelia Barrel-shaped chest Short neck Spondyloepiphyseal dysplasia Hyperlordosis Recurrent fractures Spondylometaphyseal dysplasia

Rare Symptoms - Less than 30% cases


Multiple epiphyseal dysplasia Hypoplastic iliac wing Disproportionate short stature Severe short stature Abnormality of the metaphysis Genu valgum Short long bone Osteoarthritis Childhood-onset short-trunk short stature Short thorax Abnormality of the wrist Beaking of vertebral bodies Arthralgia Epiphyseal dysplasia Arthritis Hypoplasia of the odontoid process Intellectual disability Abnormality of epiphysis morphology Blue sclerae Skeletal dysplasia Mild short stature Hip osteoarthritis Joint dislocation Genu varum Abnormality of ulnar metaphysis Large iliac wings Progressive spastic quadriplegia Rhizomelia Myopia Abnormal form of the vertebral bodies Abnormality of radial metaphyses Metaphyseal enchondromatosis Cerebral calcification Delayed eruption of teeth Abnormality of the dentition Abnormality of the tibial metaphysis Short sacroiliac notch Metaphyseal dysplasia Metaphyseal irregularity Biconcave flattened vertebrae Bowing of limbs due to multiple fractures Otosclerosis Dentinogenesis imperfecta Spondylolisthesis Reduced bone mineral density Wormian bones Bruising susceptibility Hearing impairment Hyperconvex vertebral body endplates Ovoid vertebral bodies Tetralogy of Fallot Hypoplastic pelvis Waddling gait Pes planus Gait disturbance Tibial metaphyseal irregularity Hypoplasia of proximal radius Short tubular bones of the hand Bowed humerus Flared femoral metaphysis Knee pain Anterior rib cupping Carpal bone hypoplasia Cervical subluxation Hump-shaped mound of bone in central and posterior portions of vertebral endplate Hip pain Increased susceptibility to fractures Advanced ossification of carpal bones Coronal cleft vertebrae Small epiphyses Abnormality of the hand Cerebellar agenesis Schizencephaly Vertebral compression fractures Hypoplasia of the pons Thin ribs Arnold-Chiari malformation Clinodactyly Autism Cerebellar hypoplasia Microcephaly Global developmental delay Supernumerary vertebral ossification centers Slender finger Vertebral segmentation defect Abnormal vertebral morphology Arachnodactyly Brachydactyly Hypermetropia Osteochondritis Dissecans Pain Synovitis Avascular necrosis of the capital femoral epiphysis Thoracic kyphosis Upper limb undergrowth Irregular vertebral endplates Congenital hip dislocation Pectus carinatum Malar flattening Abnormality of the skeletal system Camptodactyly Limb undergrowth Hypoplasia of the capital femoral epiphysis Irregular epiphyses Shield chest Disproportionate short-trunk short stature Opacification of the corneal stroma Limitation of joint mobility Proximal femoral metaphyseal irregularity Increased vertebral height Spinal cord compression Radial deviation of finger Femoral bowing present at birth, straightening with time



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Dysphagia, related diseases and genetic alterations Visual impairment and Lymphopenia, related diseases and genetic alterations Cryptorchidism and Optic atrophy, related diseases and genetic alterations Failure to thrive and Diarrhea, related diseases and genetic alterations Cataract and Meningitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more