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

  • 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]

  • Achondroplasia

    Achondroplasia is an inherited bone disorder that results in dwarfism characterized by short limbs, an average-sized trunk and a large head.[columbianeurosurgery.org] 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[link.springer.com] 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]

  • 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]

  • Pseudoachondroplasia

    The trunk and limbs are short, making it proportionate dwarfism. The height of adults varies but is often less than 128 cm.[aqppt.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] […] dysplasia Clinical Early onset with limb growth–irregular 'mushroomed' metaphyses, small, irregular and fragmented epiphyses, short bowed diaphyses, flattened vertebrae, lumbar lordosis[medical-dictionary.thefreedictionary.com]

  • 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] Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs.[diseaseinfosearch.org] The short stature and limb shortening can be mild.[medicinenet.com]

  • Kniest Dysplasia

    Introduction Form of disproportionate short-trunk dwarfism a Type II collagenopathy Genetics autosomal dominant defect in COL2A1 (missense, splice or deletion) defect leads[orthobullets.com] Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome[medical-dictionary.thefreedictionary.com] Sonography revealed only short limbs in the fetus.[infona.pl]

  • Atelosteogenesis

    Spondylocarpotarsal synostosis syndrome (SCT) is a form of short trunk dwarfism with autosomal recessive inheritance.[ctgt.net] As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs.[malacards.org] The clinical phenotype was disproportionate short stature with more » varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis.[osti.gov]

  • 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 is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.[monarchinitiative.org]

  • Boomerang Dysplasia

    Spondylocarpotarsal synostosis syndrome (SCT) is a form of short trunk dwarfism with autosomal recessive inheritance.[ctgt.net] Wikipedia : 72 Dwarfism with short, bowed, rigid limbs and characteristic... more...[malacards.org] Orpha Number: 1263 Disease definition Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet[rarediseases.info.nih.gov]

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