Findings from the literature concerning diagnosis, presenting symptoms, and intervention taken are discussed. Additionally, a patient with a diagnosis of SED congenita who presented with bilateral hand numbness is described. [ncbi.nlm.nih.gov]

• Barrel Chest

  We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. [ncbi.nlm.nih.gov]

  An autosomal condition of neonatal onset (OMIM:183900) characterised by shortened trunk, neck and proximal extremities, barrel chest, spinal involvement, and variably accompanied by myopia and retinal detachment. [medical-dictionary.thefreedictionary.com]

  Systemic Features: Dwarfism with kyphosis and a barrel chest are characteristic. The vertebrae are often flattened and malformed and the neck is short. Delayed ossification in the epiphyses and the os pubis is common. [disorders.eyes.arizona.edu]

  Spondyloepiphyseal dysplasia is an autosomal dominant dwarfism characterized by spine greater than extremities shortening, barrel chest with pectus carinatum, flat face with protruding eyes and cleft palate, genu valgus and club feet. [advancedradteaching.com]

  Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. [diseaseinfosearch.org]

• Coxa Vara

  Their height was less than -7SD of average Japanese of the same age, and all were associated with severe coxa vara. [ncbi.nlm.nih.gov]

  Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). [en.wikipedia.org]

  The 2 types of the disease are the mild coxa vara form, with height maintained (as in our patient) and the severe coxa vara form, with clinical short stature. [consultant360.com]

  vara angle progressive coxa vara symptomatic hip arthritis techniques valgus + extension osteotomy may help to decrease an associated hip flexion deformity reconstructive measures may be indicated in patients with subluxation, hinge abduction, or osteoarthritis [orthobullets.com]

• Muscle Hypotonia

  There was generalized hypotonia of the limb and abdominal muscles. His medical history was otherwise unremarkable for any major organ dysfunction. [journals.lww.com]

• Swelling of Hand

  Unlike X-linked SEDT, joint swelling and hand involvement are common features of this disorder. Morquio syndrome (mucopolysaccharidosis type IV) is characterized by mild dysostosis multiplex, odontoid hypoplasia, short stature, and cloudy corneas. [ncbi.nlm.nih.gov]

• Short Neck

  We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. [ncbi.nlm.nih.gov]

  We report a twelve year old child who presented with polyarthritis of knee and ankle joints, developmental delay, syndromic facies, short neck, pectus carinatum, hypertrichosis and hyperpigmentation. [valleyinternational.net]

  Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centers. short neck short trunk with protruding abdomen normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly [radiopaedia.org]

  This results in short stature with a very short trunk and limbs, although hands and feet may be more average-sized. People with SED usually have barrel chests, short necks, and abnormal curvature of the spine that may get worse as they age. [connecticutchildrens.org]

• Waddling Gait

  gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 48 | Last updated: 6/1/2019 Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. [rarediseases.info.nih.gov]

  gait Imaging Radiographs recommended views AP, lateral, open mouth views of cervical spine AP, lateral views of thoracolumbar spine AP, lateral views of hips alternative views flexion-extension views of cervical, thoracolumbar spine findings cervical [orthobullets.com]

  Gait issues and neck instability may require some children with SEDc to limit walking and instead use a wheelchair. [chop.edu]

  A characteristic waddling gait is seen due to hip involvement. [rgauk.org]

[…] jogging (Spondyloepiphyseal dysplasia Treatment, 2008). [biology-research.blogspot.com]

A case of spondyloepiphyseal dysplasia congenita (SEDC) with thoracolumbar kyphosing scoliosis and a clinical outcome of the patient's surgical treatment are reported. [ncbi.nlm.nih.gov]

Others will need non-surgical or surgical treatments to address specific aspects of their condition. [en.wikipedia.org]

The description and natural history of the double heterozygote phenotype may be useful in counseling families regarding risk and prognosis. [ncbi.nlm.nih.gov]

Full text article available by contacting [email protected] Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children. [lpamrs.memberclicks.net]

The description and natural history of the double heterozygote phenotype may be useful in counseling families regarding risk and prognosis. Am. J. Med. Genet. 104:140-146(2001) [ PubMed ] [ Europe PMC ] [uniprot.org]

[…] myopia retinal hemorrhage hearing loss nephrotic syndrome Complications osteoarthritis Plain radiograph first test to survey the abnormalities platyspondyly vertebral hypoplasia femoral head: flattening and late epiphyseal development Treatment and prognosis [radiopaedia.org]

The clinical findings and radiographic features are presented and the etiology and neurosurgical management of spondyloepiphyseal dysplasia congenita are discussed. [ncbi.nlm.nih.gov]

Etiology SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). Genetic counseling The inheritance is autosomal dominant. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.com]

(Etiology) X-Linked Spondyloepiphyseal Dysplasia is caused by mutations in the TRAPPC2 gene (sometimes called the SEDL gene), which is located on the X chromosome The TRAPPC2 gene provides instructions for producing a protein called sedlin. [dovemed.com]

Bailey suggested two groups in addition to SED congenita and SED tarda: pseudo-Morquio disease and pseudoachondroplasia SED. [9] In this article, only the most common types of SED (ie, SED congenita and SED tarda) are discussed in detail. [10] Etiology [emedicine.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected. [orpha.net]

Introduction A form of short-trunk dwarfism caused by a defect in the secondary ossification center (epiphysis) Epidemiology rare Pathophysiology caused by abnormal synthesis of Type II collagen primarily affects the vertebrae and epiphysis of bone Genetics [orthobullets.com]

Introduction Define/describe the condition Anatomy Describe the pertinent anatomy Pathogenesis Describe the biomechanics/biologic basis of the disorder or the mechanism of injury Natural History Describe the natural history, epidemiology and prognosis [orthopaedicsone.com]

Epidemiology International statistics SED congenita is a rare genetic disorder. The prevalence is approximately 3.4 per million population. [7] The incidence rate is approximately 1 per 100,000 live births. [emedicine.com]

Introduction A form of short-trunk dwarfism caused by a defect in the secondary ossification center (epiphysis) Epidemiology rare Pathophysiology caused by abnormal synthesis of Type II collagen primarily affects the vertebrae and epiphysis of bone Genetics [orthobullets.com]

Spranger and Langer provided a further review of 29 patients in 1970. [2] In 1969, Fraser noted the particular association of SED with myopia, retinal detachment, and deafness. [3] In 1939, Jacobsen recognized SED tarda in a report of 20 patients. [4] Pathophysiology [emedicine.com]

Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U1 small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. [ncbi.nlm.nih.gov]

X-Linked Spondyloepiphyseal Dysplasia Tarda may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] hearing loss due to repeated ear infections Orthodontic treatment to relieve crowding of teeth caused by a small jaw Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems [webmd.com]