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]

The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones ( epiphyses ), and that it is present from birth ( congenital ). [wikidoc.org]

• Disproportionate Short Stature

  Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. [ncbi.nlm.nih.gov]

  We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. A pedigree analysis of 3 generations with 6 affected persons revealed an X-linked recessive mode of inheritance. [annlabmed.org]

  See all Hide authors and affiliations Science 26 May 1989: Vol. 244, Issue 4907, pp. 978-980 DOI: 10.1126/science.2543071 Abstract Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of inherited disorders characterized by disproportionate short [science.sciencemag.org]

  Features of HCH may include: Short stature with an adult height in the range of 128 -151 cm (4 feet, 2 inches to 4 feet 11 inches); Disproportionate arms and legs with short, broad hands and feet; Macrocephaly (an enlarged head); Limitation of elbow movement [rgauk.org]

• Pallor

  Paraneoplastic and autoimmune retinopathies associated with antienolase antibodies are characterized predominantly by cone dysfunction, a slow progression of central vision loss, and eventual optic disc pallor. [entokey.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]

  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]

• 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]

  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]

  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]

  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 Weakness

  Symptoms involving the other tissues include muscle weakness, high myopia, other eye problems and hearing problems (Symptoms, 2010) Current Diagnostic Methods Diagnostic methods for Spondyloepiphyseal dysplasia congenita generally involve a variety of [biology-research.blogspot.com]

  […] nerve or muscle weakness An ophthalmologist for vision issues An otolaryngologist for hearing loss, cleft palate or frequent ear infections A pulmonologist to monitor lung function, breathing and sleep issues A psychologist or social worker to address [chop.edu]

  Hypotonia (diminished muscle tone), muscle weakness, and/or stiffness is exhibited in most cases. Progressive nearsightedness (myopia) may develop and/or retinal detachment. [encyclopedia.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]

• Knee Pain

  Back, hip and knee pain are common. Orthopaedic Conditions in Patients with Spondyloepiphyseal Dysplasia Tarda Orthopaedic conditions that may occur as a result of spondyloepiphyseal dysplasia tarda vary, even within a family with the condition. [hopkinsmedicine.org]

• Short Neck

  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]

  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]

  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]

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

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

• Steppage Gait

  […] spinal canal脊柱管 spinal [canal] stenosis脊柱管狭窄［症］ spinal cord 脊髄 spinal cord tumor脊髄腫瘍 spinal fusion脊椎固定［術］ spinal instrumentation脊椎インストゥルメンテーション spine１．脊椎、２．脊柱、３．棘（きょく）（＝spina）、４．結節 splint副子、シーネ、スプリント spondylolisthesis脊椎すべり症 spondylolysis脊椎分離症 stenosis狭窄 steppage [tokyo-med.ac.jp]

• Paresis

  (OA) 骨関節症、変形性関節症 osteogenesis imperfecta (OI)骨形成不全症 osteoid osteoma類骨骨腫 osteon骨単位、オステオン osteoporosis骨粗鬆（しょう）症、オステオポローシス osteosarcoma骨肉腫 p pain 疼痛 palm手掌 palpation 触診［法］ palsy麻痺〈paralysisもみよ〉 paralysis麻痺〈palsyもみよ〉 paraplegia対麻痺 parathyroid gland上皮小体 paresis [tokyo-med.ac.jp]

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]

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]

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]

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 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]

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]

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

Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal diagnosis of SEDC performed in China by polymerase chain reaction sequence-specific primer (PCR-SSP) analysis. [ncbi.nlm.nih.gov]

[…] 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]