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

Did you mean: Dwarfism -, Short Trunk, Short-Limbed, Lordosis

  • Achondroplasia

    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] short limbs.[medicinenet.com]

  • Cartilage Hair Hypoplasia

    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[ncbi.nlm.nih.gov] 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]

  • Pseudoachondroplasia

    Achondroplastic dwarfism is characterized by an average-sized trunk, short arms and legs, and a slightly enlarged head and prominent forehead.[pbs.org] The case of the current report also had lumbar lordosis ( Figure 1 ). Lumbar lordosis is observed in around 50% of affected individuals ( 4 ).[comprped.com] 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

    Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] 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] short trunk ( dwarfism ), dysplasia (abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver ( hepatomegaly ) or[en.wikipedia.org]

  • Spondylometaphyseal Dysplasia

    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] Two sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described.[ncbi.nlm.nih.gov]

  • Hypochondroplasia

    […] 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] Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov] The mother presents short limbed stature, short iliac bones, short femoral necks, short stubby tibia and mildly increased fibular length and genu varum.[ncbi.nlm.nih.gov]

  • Spondylocarpotarsal Synostosis

    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] The limbs are short, bowed and rigid. Iliac bones can be small.[ctgt.net]

  • Schmid Metaphyseal Chondrodysplasia

    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] Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized[ncbi.nlm.nih.gov]

  • 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]

  • Immuno-Osseous Dysplasia

    A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe[ncbi.nlm.nih.gov] We describe a girl, 5 years old, with short-trunk type of dwarfism (height 75 cm, below 3rd centile), short neck, accentuated lumbal lordosis and protruding abdomen.[scholars.duke.edu] Additional features include excessive inward curvature of the lumbar spine (lumbar lordosis, 84%), a protruding abdomen, and hyperpigmented macules (85%) on the trunk and[rarediseases.org]

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