Abnormality of the skeletal system, and Platyspondyly

Diseases related with Abnormality of the skeletal system and Platyspondyly

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system 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 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

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

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Other less relevant matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE


Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Platyspondyly
  • Genu valgum
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

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

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR


Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).

Related symptoms:

  • Short stature
  • Pain
  • Arthralgia
  • Platyspondyly
  • Waddling gait


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR

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 MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


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.

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low match FIBROCHONDROGENESIS 2; FBCG2


Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE


Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Platyspondyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Small epiphyses Uncommon - Between 30% and 50% cases
Genu varum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Platyspondyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Rare Symptoms - Less than 30% cases


Metaphyseal widening Micromelia Spondyloepiphyseal dysplasia Irregular vertebral endplates Short thorax Hypoplastic pubic bone Short femoral neck Beaking of vertebral bodies Pain Waddling gait Spondyloepimetaphyseal dysplasia Limb undergrowth Thoracic hypoplasia Osteoarthritis Pectus excavatum Clinodactyly Flat face Heberden's node Myopia Irregular epiphyses Micrognathia Narrow iliac wings Hearing impairment Posterior rib cupping Schmorl's node Knee osteoarthritis Anteverted nares Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Exostoses Metaphyseal spurs Arthropathy Pathologic fracture Hip dysplasia Joint hypermobility Joint stiffness Macrocephaly Ovoid vertebral bodies Enlarged joints Short ribs Cupped ribs Lumbar hyperlordosis Hypoplastic ischia Metaphyseal cupping Hypoplastic ilia Bell-shaped thorax Protuberant abdomen Short long bone Disproportionate short-limb short stature Bowing of the legs Hyperlordosis Congestive heart failure Wide anterior fontanel Limited elbow extension Flat acetabular roof High myopia Skeletal dysplasia Midface retrusion Malar flattening Short nose Pneumonia Kyphoscoliosis Childhood-onset short-trunk short stature Cerebellar hypoplasia Schizencephaly Vertebral compression fractures Hypoplasia of the pons Thin ribs Increased susceptibility to fractures Arnold-Chiari malformation Blue sclerae Recurrent fractures Autism Microcephaly Delayed skeletal maturation Global developmental delay Metaphyseal irregularity Small nail Wide intermamillary distance Intellectual disability, mild Supernumerary vertebral ossification centers Slender finger Vertebral segmentation defect Abnormal vertebral morphology Arachnodactyly Cerebellar agenesis Genu valgum Proximal femoral metaphyseal irregularity Irregular acetabular roof Increased vertebral height Barrel-shaped chest Spinal cord compression Radial deviation of finger Abnormality of the metaphysis Hypermetropia Camptodactyly Kyphosis Short neck Brachydactyly Delayed ossification of carpal bones Abnormality of epiphysis morphology Metaphyseal dysplasia Arthralgia Advanced ossification of carpal bones Coronal cleft vertebrae Multiple epiphyseal dysplasia Epiphyseal dysplasia Abnormality of the hand Joint dislocation Flat capital femoral epiphysis Proportionate short stature Dysplastic iliac wings



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