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]

The Irapa and the Iraqi types of SEMD superficially resemble the condition present in our patient. [czytelniamedyczna.pl]

The platy-spondyly in SEMD of Maroteaux is present since birth,but does not end in tongue-like deformity. [dokumen.tips]

The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated. Similar articles [Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. [pubmed.ncbi.nlm.nih.gov]

• Coxa Vara

  Symptoms via clinical synopsis from OMIM: 57 Skeletal: osteoarthritis spondyloepimetaphyseal dysplasia Chest Ribs Sternum Clavicles And Scapulae: pectus carinatum widened costochondral junction Skeletal Pelvis: coxa vara protruding iliac wings wide femoral [malacards.org]

  vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. [orpha.net]

  Name Spondyloepimetaphyseal Dysplasia, Irapa Type Synonyms - Classification bone, developmental, genetic Phenotypes Arthralgia ; Autosomal recessive inheritance ; Broad femoral neck ; Broad foot ; Broad palm ; Capitate-hamate fusion ; Coxa vara ; Disproportionate [mousephenotype.org]

• Short Arm

  […] metatarsals flat, broad feet long second toes Skeletal Limbs: osteoarthritis genu valgum metaphyseal dysplasia arthralgias short arms more Skeletal Spine: platyspondyly increased lumbar lordosis small sacrum Skeletal Hands: capitate-hamate fusion short [malacards.org]

  arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. [orpha.net]

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. The COL2A1 contains instructions for creating (encoding) type II collagen. [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]

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]

Differentiating between mechanical low pain and the far less common inflammatory back pain, or axial spondyloarthropathy, is crucial, because the prognosis and treatment are so different. [freethesaurus.com]

Standard Therapies Treatment Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

You can help by adding to it. ( December 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( December 2017 ) References [ edit ] This article incorporates public domain text from The U.S. [en.wikipedia.org]

Differentiating between mechanical low pain and the far less common inflammatory back pain, or axial spondyloarthropathy, is crucial, because the prognosis and treatment are so different. [freethesaurus.com]

Etiology Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] in a 2-year-old girl with a severe form ofspondyloepimetaphyseal dysplasia and where platy-spondyly was present in the neonatal period is differ-entiated from the SEMD of Maroteaux by the presence ofprenatal short stature and facial dysmorphism.The etiology [dokumen.tips]

ORPHA:93351 Synonym(s): SEMD, Irapa type Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: - ICD-10: Q77.7 OMIM: 271650 UMLS: C0432213 MeSH: - GARD: - MedDRA: - Summary Epidemiology The syndrome has been described among Venezuelan Indians [orpha.net]

[…] rt sedimentation rate SEDT spondyloepiphyseal dysplasia tarda SEDT-PA spondyloepiphyseal dysplasia tarda-progressive arthropathy SEE standard error of estimate; staphylococcal enterotoxin E SEEG stereotactic electroencephalography SEER Surveillance Epidemiology [health.am]

Simply a genuine human error, so the content team will improve the editorial guidance in order to prevent these issues going forward. [confluence.ihtsdotools.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. [en.wikipedia.org]

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

Mary's Ealing, Northwick Park Diabetes Cardiovascular Prevention [study] SENIC Study of the Efficacy of Nosocomial Infection Control SENS sensitivity or sensitization; Stewart evaluation of nursing scale Sens sensitivity sens sensation, sensorium, sensory [health.am]