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159 Possible Causes for Dwarfism - Short Trunk, Short-Limbed, Lordosis

  • Achondroplasia

    short limbs.[medicinenet.com] Achondroplasia-like dwarfism (distinguish radiologically). Spondyloepiphyseal dysplasias: the spine is mainly affected, with the trunk short as well as the limbs.[patient.info] Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis[fpnotebook.com]

  • Cartilage Hair Hypoplasia

    Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics[littlepeopleuk.org] Short-trunk variety (e.g., Kniest syndrome–spondyloepiphyseal) 2.[slideshare.net] Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and[link.springer.com]

  • Pseudoachondroplasia

    Limb X-ray reveals short thickened femur and tibia with metaphyseal widening.[comprped.com] Achondroplastic dwarfism is characterized by an average-sized trunk, short arms and legs, and a slightly enlarged head and prominent forehead.[pbs.org] The trunk and limbs are short, making it proportionate dwarfism. The height of adults varies but is often less than 128 cm.[aqppt.org]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis IVA should be suspected in an individual with the following findings 29 : Marked disproportionate short stature with short trunk and normal limbs Respiratory[centogene.com] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] History Of Present Illness Patient developed progressive generalized weakness with easy fatigability with his history of shortness of breath upon exertion and while climbing[slideshare.net]

  • Spondylometaphyseal Dysplasia

    Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[cags.org.ae] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov] Skeletal signs & symptoms are noticeable as the disorder progresses including spine curvature which can either be scoliosis or lumbar lordosis, flattened vertebrae, severely[signssymptoms.org]

  • Hypochondroplasia

    Hypochondroplasia also has macrocephaly, but lacks the craniofacial features found in other forms of short limb dwarfism.[mypacs.net] […] stature with a long trunk and short limbs, broad and short fingers; the face is normal in appearance. hy·po·chon·dro·pla·si·a ( hī'pō-kon'drō-plā'zē-ă ), [MIM*146000] A skeletal[medical-dictionary.thefreedictionary.com] Bulky forehead, saddle nose, lumbar lordosis, bowlegs Very common today Autosomal dominant The iliac wings are short and squared off Narrowing of the spinal canal Achondroplasia[plaza.ufl.edu]

  • Schmid Metaphyseal Chondrodysplasia

    Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.[monarchinitiative.org] trunk dwarfism.[orthopaedicsone.com] Short limbed dwarfism Bowed legs (genu varum) Flaring of bones of the lowe rib cage lumbar lordosis hip deformities (coxa vara) Waddling gait Arthritis later in life *Please[littlepeopleuk.org]

  • Spondylocarpotarsal Synostosis

    The limbs are short, bowed and rigid. Iliac bones can be small.[ctgt.net] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Epiphyseal dysplasia 0002656 Hyperlordosis[rarediseases.info.nih.gov] The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).[malacards.org]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    […] stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe[malacards.org] Low match BRACHYOLMIA TYPE 2; BCYM2 The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by[mendelian.co] We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked[ncbi.nlm.nih.gov]

  • Jeune Syndrome

    Diagnosis Jeune syndrome is usually diagnosed at birth based on the chest deformity and short-limbed dwarfism. Severely affected infants will have respiratory distress.[verywell.com] Upright anteroposterior/lateral radiographs were measured for Cobb angle, kyphosis, lordosis, thoracic width, and thoracic/lumbar spinal height.[uthscsa.influuent.utsystem.edu] A lateral whole spine radiograph also showed thoracic lordosis was 5 and thoracolumbar kyphosis was 28 (Fig. 2 ).[scoliosisjournal.biomedcentral.com]

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