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14 Possible Causes for Abnormal Spine X-Ray, Severely Disproportionate Short Stature, Thin Lips

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.[orpha.net] lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three[malacards.org]

  • Growth Failure

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] […] upper lip, short neck.[cyberleninka.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Platyspondyly

    […] postnatal abnormal spine curvature X-ray Shape of spine WTSI IMPC 6.36E-5 Wdr37 Wdr37 tm1a(KOMP)Wtsi HOM postnatal abnormal spine curvature X-ray Shape of spine WTSI IMPC[mousephenotype.org] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] […] vermilion border Protrusio acetabuli Weak voice Hypoplasia of the maxilla Percussion myotonia Hypermetropia Testicular torsion Cleft lip Bulbous nose Slender finger Abnormal[mendelian.co]

  • Familial Short Stature

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] […] upper lip.[aafp.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] considered very rare Occurs as a result of mutation in the PCNT gene Adult height ranges from 20 inches to 40 inches Diagnosis of MOPDII After birth by: Historical records X-rays[littlepeopleuk.org] […] intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs.[genome.jp] They usually have webbed toes, non-descended testicles, low muscle tone, thin upper lip, high voice, small chin and board forehead.[ic.steadyhealth.com]

  • Tibia Varum

    Too much abnormal motion in the cervical spine can cause pressure on the spinal cord. Treatment for this disorder requires regular clinical exams and X-rays.[shrinershospitalsforchildren.org] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] Adult 131-157cms X-rays normal in early childhood; later, abnormalities of spine, initially of the lumbar vertebrae in adolescence X-linked Acrodysplasias A number of disorders[posi.in]

  • Kniest Dysplasia

    After birth by: Observation of common physical characteristics X-rays What are common characteristics of Kniest Dysplasia?[littlepeopleuk.org] The girl had a dysmorphic flat face with hypertelorism, a small nose with a depressed nasal bridge, anteverted nostrils, down turned mouth corners and a thin upper lip.[raredisorders.imedpub.com] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    A definitive diagnosis may be made by x ray of the limbs and spine.[encyclopedia.com] Alopecia, broad nasal bridge, anteverted nostrils, flat philtrum, thin upper lip. C.[scielo.conicyt.cl] Rhizomelic chondrodysplasia punctata type 1 ( RCDP1 ; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic[ctgt.net]

  • Schmid Metaphyseal Chondrodysplasia

    X-ray demonstrates metaphyseal widening, coxa vara, without associated cervical spine abnormalities or extra-skeletal manifestations.[endocrine-abstracts.org] lips and down‐slanted oral commissures) intellectual disability, upper limbs abnormalities and hypertrichosis.[intechopen.com] MCDS, autosomal dominant inheritance, results from mutation in COL10A1; coding collagen type X.[endocrine-abstracts.org]