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786 Possible Causes for Coxa Valga, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga.[themedicalbiochemistrypage.org] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene
  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

    Missing: Coxa Valga
  • Singleton Merten Syndrome

    , Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPASTIC[rgd.mcw.edu] Other commonly seen radiographic findings include shallow acetabular fossa, subluxation of the femoral head, coxa valga, hypoplastic radial epiphysis, soft tissue calcifications[en.wikipedia.org] valga ; Cutaneous photosensitivity ; Decreased body weight ; Expanded metacarpals with widened medullary cavities ; Expanded metatarsals with widened medullary cavities ;[mousephenotype.org]

    Missing: Mutation in the VPS53 Gene
  • Mucopolysaccharidosis 1

    quadriplegia syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital[se-atlas.de] valga, and flaring of the lower ribs.[genedx.com] The femoral heads are small and coxa valga is common. Involvement of the femoral heads and acetabula leads to progressive and debilitating hip deformity.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Kaufman Oculocerebrofacial Syndrome

    quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease ELOVL5 Spinocerebellar ataxia FBXL4 Mitochondrial DNA depletion syndrome FGF14 Spinocerebellar[genda.com.ar] Radiologic examination reveals a turricephalic skull, marked craniofacial disproportion, mild kyphoscoliosis, coxa valga, bilateral hypoplasia of the first ray of both hands[accessanesthesiology.mhmedical.com] Two patients had a history of apnea either shortly after birth or obstructive sleep apnea later in life. findings included polydactyly, coxa valga, scoliosis, congenital arthrogryposis[docksci.com]

    Missing: Mutation in the VPS53 Gene
  • Coxa Vara

    Coxa valga is more common in women.[sharecare.com] Case contributed by Wikipedia Diagnosis not applicable Diagnosis not applicable From the case: Coxa vara and coxa valga: diagram Diagram Coxa vara and coxa valga measurements[radiopaedia.org] Definition/Description Coxa valga is defined as the femoral neck shaft angle being greater than 139 [1] Coxa vara is as a varus deformity of the femoral neck.[physio-pedia.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Subcutaneous Abscess

    In addition, sequestrectomy and two late operations, for coxa valga and hip subluxation, were deemed to be necessary.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Mucopolysaccharidosis

    valga, genu valgum, waddling gait, and laxity of joints.[ncbi.nlm.nih.gov] Severe coxa valga was seen in 91% of the patients.[journals.lww.com] valga, and flaring of the lower ribs.[genedx.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Schwartz-Jampel Syndrome

    The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com] valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched[mousephenotype.org] […] vara and coxa valga Deformities of the fingers Clubfoot and/or flat feet Osteoporosis Both muscle hypertrophy and atrophy Chondrodystrophy (abnormalities of the cartilage[forgottendiseases.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Mucopolysaccharidosis 4A

    valga.[sumerdoc.blogspot.com] valga 0002673 Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more[rarediseases.info.nih.gov] Radiological findings in Morquio's syndrome include odontoid hypoplasia, atlanto-axial subluxation, flared ribs, short thorax, flattened capital femoral epiphyses, coxa valga[patient.info]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia

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