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]

• Congestive Heart Failure

  heart failure 438 Pulmonary edema or congestion with normal or slightly enlarged heart 439 Cor pulmonale General overview 440 Azygos or hemiazygos vein enlargement 441 Asplenia syndrome 442 Systemic hypertension in childhood General overwview 443 Surgical [books.google.com]

• 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]

  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]

  SYMPTOMS: Clinical signs of SEDC are short trunk dwarfism, barrel-chested, myopia (near-sightedness), retinal detachment, knees may be misaligned, decreased hearing, cleft palate, and flat facial features. [ksginfo.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]

• Muscle Hypotonia

  In spite of generalized muscle hypotonia, the patient's response to atracurium was normal. At the end of surgery, neuromuscular blockade was reversed and the trachea extubated. [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]

• Joint Swelling

  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]

• Neck Pain

  In contrast, the patient with SED congenita, an 11 year old girl, had neck pain, hyperreflexia and loss of vibration sense in both legs. [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]

  Physical examination revealed a child (85cm dwarf) with rounded facies, hypertelorism, knock-knee, thoracic kyphoscoliosis, pes cavus, low hairline, and short neck. There was generalized hypotonia of the limb and abdominal muscles. [journals.lww.com]

  Most cases result from new mutations in the gene and occur in people with no family history of the condition. 0000774 Platyspondyly Flattened vertebrae 0000926 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [rarediseases.info.nih.gov]

  Aiden also has a short neck and pubic bones that aren't yet fully ossified (still soft bone, the cartilage hasn't fully hardened yet). Another pointer to this type of skeletal dysplasia is that the discs in the bottom of his spine are thinner. [littlefireosuna.blogspot.com]

• Waddling Gait

  gait, stiff joints, loose ligaments and decreased ability to walk Craniofacial deformities, such as cleft palate, flat face and wide-set eyes Hearing and vision problems, including decreased vision, hearing deficits and deafness Digestive and stomach [chop.edu]

  Patients had short-trunk dwarfism, short neck, spinal and limbs deformities, coxa vara, genu valgum, waddling gait and various joint diseases, especially loss of complete bone formation of femoral head. [journals.plos.org]

  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]

  Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. [ncbi.nlm.nih.gov]

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]

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

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

There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. [rarediseases.info.nih.gov]

Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients. [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]

(Outcomes/Resolutions) The prognosis of X-Linked Spondyloepiphyseal Dysplasia Tarda is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

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]

(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]

[…] 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]

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]

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]

Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. [ghr.nlm.nih.gov]