In the present series the most common type of presentation was back ache (3 patients), gait abnormalities(2 patients) and pain in the hip and difficulty in walking( 1 patient).One patient only came with primary complaint of short stature, eventhough physical [ijri.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

This syndrome also presents a clinical variability. [intechopen.com]

Susanne Grässel, Attila Aszódi Springer, ٢٥‏/٠١‏/٢٠١٧ - 261 من الصفحات In three Volumes this mini book series presents current knowledge and new perspectives on cartilage as a specialized yet versatile tissue. [books.google.com]

• Short Stature

  […] thorax Spondyloepiphyseal dysplasia congenita Growth abnormality Proportionate short stature Short stature Source: GTR (NCBI/NIH) 1 • • • Back to: « Spondyloepiphyseal dysplasia, kimberley type Back to: « Spondyloepiphyseal dysplasia • • • Symptoms and [familydiagnosis.com]

  Disease definition Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. [orpha.net]

  Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. [ncbi.nlm.nih.gov]

  Idiopathic short stature (50% of cases) [ 8 ] includes familial short stature, non‐familial short stature and constitutional growth and puberty delay. [intechopen.com]

• Multiple Congenital Anomalies

  Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes page for X-linked SMD. [ksginfo.org]

• Tall Stature

  SHOX gene is an important determinant of growth, SHOX deletions being associated with short stature and SHOX duplications with tall stature. [intechopen.com]

• Barrel Chest

  A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [pathwaycommons.org]

  Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [genecards.org]

  Ref.9Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [labome.com]

  A common presenting feature of X-linked SEDT is a disproportionate (short trunk) short stature due to platyspondyly, commonly described as being "barrel-chested". [synapse.koreamed.org]

• Platyspondyly

  Bowing of the legs Flat capital femoral epiphysis Abnormality of the skeletal system Abnormality of epiphysis morphology Bowing of the legs Delayed skeletal maturation Flat capital femoral epiphysis Osteoarthritis susceptibility 1 Osteochondrodysplasia Platyspondyly [familydiagnosis.com]

  Abnormalities of other epiphysis, platyspondyly and narrowed disc spaces of spine help to establish the correct diagnosis [8]. [ijri.org]

  Name Spondyloepiphyseal Dysplasia, Kimberley Type Synonyms - Classification bone, developmental, genetic Phenotypes Autosomal dominant inheritance ; Delayed skeletal maturation ; Flat capital femoral epiphysis ; Genu valgum ; Genu varum ; Platyspondyly [mousephenotype.org]

  Platyspondyly, with hump-shaped central portions of the vertebral bodies was noted, and the epiphyses were irregular with flattening of the femoral heads. [synapse.koreamed.org]

  The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. [pathwaycommons.org]

• Short Trunk

  A common presenting feature of X-linked SEDT is a disproportionate (short trunk) short stature due to platyspondyly, commonly described as being "barrel-chested". [synapse.koreamed.org]

  […] and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. [mendelian.co]

  On clinical examination he had slight reduction in hip movements, barrel shaped chest and a short trunk. Thyroid and growth hormonal assays were normal. [ijri.org]

  […] or short-trunk types, according to whether the limbs or the trunk is more extensively involved. [emedicine.medscape.com]

  Presentation [ edit ] People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. [en.wikipedia.org]

• Severe Short Stature

  Spondyloepimetaphyseal dysplasia, aggrecan type Orphanet_171866 [Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.] [ebi.ac.uk]

  A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [pathwaycommons.org]

  Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [genecards.org]

  Ref.9Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [labome.com]

  […] by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. [mendelian.co]

• Arthritis

  Track disease progression and treat patients more effectively with the information on genetic findings, imaging outcomes, cell and biologic therapies, rheumatoid arthritis, and SLE. [books.google.com]

  Diseases related with Arthritis and Micromelia In the following list you will find some of the most common rare diseases related to Arthritis and Micromelia that can help you solving undiagnosed cases. [mendelian.co]

  Decreased joint mobility and arthritis often develop early in life. Medical texts often state a mild and variable change to facial features, including cheekbones close to the nose appearing flattened, although this appears to be unfounded. [en.wikipedia.org]

  Pseudoachondroplastic dysplasias also present with dwarfism, with flattening of the vertebral bodies and central tongue like projection and premature arthritis of joints. [ijri.org]

  Wynne-Davies recognized a form of SED tarda associated with progressive arthropathy similar to juvenile rheumatoid arthritis. [7] Kohn recognized an autosomal recessive variant of SED tarda associated with mental retardation. [8] Similarly, other forms [emedicine.medscape.com]

• Lordosis

  […] disturbance Arthralgia Genu valgum Micromelia SOURCES: ORPHANET More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY Medium match HYPOCHONDROPLASIA Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis [mendelian.co]

  Curvature of the spine (kypho scoliosis and lordosis ) progresses during childhood and can cause problems with breathing. Changes in the spinal bones ( vertebrae ) in the neck may also increase the risk of spinal cord damage. [en.wikipedia.org]

  On clinical examination she had bilateral pes planus and exaggerated lumbar lordosis. Bilateral femoral capital epiphyses were flattened and sclerosed [Figure - 4]. Acetabular margins also showed irregularity and sclerosis. [ijri.org]

  In most cases, affected individuals have spinal malformations including abnormal forward curvature of the spine (lumbar lordosis) and/or abnormal roundback (kyphosis). Kyphosis may be accompanied by sideways curvature of the spine (scoliosis). [rarediseases.org]

  Other frequent signs are hyperacusis, thick voice, articular hyperlaxity, kyphoscoliosis and lordosis. [intechopen.com]

• Short Neck

  A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [pathwaycommons.org]

  Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [genecards.org]

  Ref.9Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [labome.com]

  Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized. Final adult height usually ranges between 2.8 and 4.2 feet (84-128cm). [rarediseases.org]

  short stature Short femoral neck Enlarged joints Joint stiffness Short palm Rhizomelia Irregular vertebral endplates Intellectual disability Talipes equinovarus Spinal canal stenosis Disproportionate short stature Abnormality of femur morphology Childhood [mendelian.co]

• Tingling

  Sciatica can cause pain, tingling and numbness along the sciatic nerve. A broad, barrel-shaped chest is common. Protrusion of the breastbone (sternum) and ribs may also occur (pectus carinatum). Children are more likely to have clubfeet at birth. [rarediseases.org]

Clinical Testing and Workup Basic x-rays (radiography) can be used to provide a thorough, careful examination of the entire bone system (complete skeletal survey) in order to detect changes in the skeleton that are characteristic of SEDC. [rarediseases.org]

• Delayed Bone Age

  Mounds of bone noted in the superior and posterior part of vertebral body were seen in three male patients. Femoral epiphyses were dysplastic in three patients. One of them showed small and irregular ulnar epiphyses with delayed bone age. [ijri.org]

  The patients often present a delayed bone age and low levels of IGF1. [intechopen.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.com]

Treatment [ edit ] Treatment for SEDc varies because the condition affects several body systems, and each child’s case is different. Some children will only require careful monitoring. [en.wikipedia.org]

Prognosis SED is nonlethal, and life expectancy is not reduced. However, morbidity is increased, and regular monitoring and follow-up care should be encouraged. [emedicine.medscape.com]

An adequate genetic evaluation usually facilitates decisions about therapeutic intervention and gives clues about the prognosis. 2. Genetic disorders with primary effect on growth 2.1. [intechopen.com]

Clinical description The main clinical features may include proportionate short stature ( Etiology SEDK is caused by mutation in the aggrecan gene ( AGC1, locus 15q26.1). Genetic counseling SEDK is transmitted as an autosomal dominant trait. [orpha.net]

Disorder of glycolysis Orphanet_308459 Disorder of carbohydrate metabolism Orphanet_79161 Rhizomelic chondrodysplasia punctata type 1 Orphanet_309789 etiological subtype Orphanet_377795 [Subdivision of a disease, malformation syndrome, morphological anomaly [ebi.ac.uk]

Bailey suggested two groups in addition to SED congenita and SED tarda: pseudo-Morquio disease and pseudoachondroplasia SED. [9] In this article, only the most common types of SED (ie, SED congenita and SED tarda) are discussed in detail. [10] Etiology [emedicine.medscape.com]

Their diagnosis is often difficult, thus, knowledge of the main clinical signs of each syndrome and the algorithm for clinical diagnosis and genetic testing will practically lead to an easier clinical and etiologic diagnosis. [intechopen.com]

Summary Epidemiology It has been described in one multigenerational South African family of English white descent. [orpha.net]

[…] bullosa Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for ACAN Genetic Association Database (GAD) ACAN Human Genome Epidemiology (HuGE) Navigator ACAN Atlas of Genetics and Cytogenetics in Oncology and Haematology: ACAN No data available for Genatlas for ACAN Gene Complete coding [genecards.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

[…] in Cartilage Physiology and Pathophysiology 190 Intervertebral Disc Degeneration 229 حقوق النشر حول المؤلف (2017) Editors: Prof. [books.google.com]

Spranger and Langer provided a further review of 29 patients in 1970. [2] In 1969, Fraser noted the particular association of SED with myopia, retinal detachment, and deafness. [3] In 1939, Jacobsen recognized SED tarda in a report of 20 patients. [4] Pathophysiology [emedicine.medscape.com]

These ‘matches’ can also help prevent you from re-testing the same antibody from a different source. [ab-y-ss.com]

Regular eye (ophthalmologic) exams are required to detect and assess nearsightedness and to prevent retinal detachment. Retinal detachment can be repaired surgically. [rarediseases.org]

Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. [ citation needed ] Spondyloepiphyseal dysplasia congenita is inherited [en.wikipedia.org]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

A Ponseti Bar with fitted shoes held her feet in alignment to help prevent them from tightening. "Some day she will walk," Nina said. [postcrescent.com]