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Wolcott-Rallison Syndrome
There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum.[ingentaconnect.com]
Other findings may include: diffuse demineralization with an early tendency to fracture, kyphosis, lordosis, platyspondyly, bowed femora, growth retardation, and renal failure[ctgt.net]
Scoliosis or thoracic kyphosis with exaggerated lumbar lordosis may develop.[jisppd.com]
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Pseudoachondroplasia
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]
Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood.[littlepeopledoc.com]
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Spondylocarpotarsal Synostosis
The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).[malacards.org]
Scoliosis, lordosis, carpal and tarsal synostosis with club feet are frequent. A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net]
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis[mdanderson.influuent.utsystem.edu]
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Hypochondroplasia
Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs.[diseaseinfosearch.org]
Shortened Limbs Broad, short hands and feet Large head Limited range of motion in the elbow Sway of the lower back ( lordosis ) Bowed legs Small percentage have mild to moderate[littlepeopleuk.org]
Abstract Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by mild-to-moderate shortening of the limbs, a stocky build, lordosis, and occasionally[pediatrics.aappublications.org]
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Achondroplasia
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]
With walking , the hump goes away and a pronounced sway (lordosis) of the lumbar region (the lower back) becomes apparent.[medicinenet.com]
[…] of short-limb dwarfism; characterized by short stature with rhizomelic shortening of the limbs, large head with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis[medical-dictionary.thefreedictionary.com]
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Nemaline Myopathy 2
Less Common Symptoms of Nemaline myopathy 2 High arched palate Lordosis Rigid spine Scoliosis Chest deformities more symptoms...»[rightdiagnosis.com]
Scoliosis and lordosis pose technical difficulties with regard to regional anesthesia.[neurologyindia.com]
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Trichorhinophalangeal Dysplasia Type 1
Arthritis affecting the fingers, elbow, and spine Loss of bone in the thigh A prominent breastbone Sideways curvature of the spine (scoliosis) Backward curvature of the spine (lordosis[dovemed.com]
(scoliosis) Excessive curvature of the lower back (lordosis) Pelvis Deformities in the large bone in the leg/ femur Hands Short and misshapen fingers Feet Flat foot Short[nfed.org]
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Cartilage Hair Hypoplasia
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]
Lumbar lordosis is increased ( 11 ).[jpediatricsreview.com]
. - Orthopedic problems: The lumbar lordosis and ligamentous laxity can cause joint pains of the lower spine, the knees and ankles. - Immunodeficiency: The cellular immunity[atlasgeneticsoncology.org]
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Strudwick Syndrome
[…] dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis[orpha.net]
Enlarged liver * Enlarged spleen * Protruding abdomen * Delayed growth * Delayed motor milestones * Lax joints * Inability to fully extend elbows * Coxa vara * Knock-knee * Lordosis[checkorphan.org]
[…] dysplasia congenita, strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis[malacards.org]
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I
Clinical features include weakness of the hip and shoulder girdle, difficulty walking, spinal abnormalities including scoliosis, lordosis and kyphosis, and cardiomyopathy.[sema4genomics.com]
Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis).[lgmd-info.org]
[…] abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis[rarediseases.org]