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Spondyloepimetaphyseal Dysplasia Type Irapa
SEMD Irapa

Presentation

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]

Musculoskeletal

  • 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]

Workup

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]

Treatment

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]

Prognosis

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

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]

Epidemiology

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]

Prevention

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]

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