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Spondyloepimetaphyseal Dysplasia Type Bieganski

X-Linked SEMD - Mental Deterioration


Presentation

  • Patients present short stature, coarse facies, psychomotor regression and cognitive impairment.[orpha.net]
  • Brachydactyly was present in the hands and feet. The children were normal at birth.[omim.org]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • Presentation typically occurred between 12 and 36 months.[paperity.org]
  • A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children.[epidemiologie-sousse.org]
Short Stature
  • His development was normal in the first year of life; abnormal face, slow psychomotor development, short stature, and progressive skeletal deformities were noted from his second year of life onwards.[omim.org]
  • Patients present short stature, coarse facies, psychomotor regression and cognitive impairment.[orpha.net]
  • stature Skeletal Skull: wormian bones Skeletal Hands: brachydactyly large, broad hands metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses[malacards.org]
  • A: Patient 1 at the age of 2 years and 5 months, note the disproportionate short stature with short trunk and genu varum.[docslide.com.br]
Progressive Mental Retardation
  • The main clinical features were short stature, abnormal face, skeletal deformities, and progressive mental retardation. Radiologically, there were epimetaphyseal changes and spine involvement. Brachydactyly was present in the hands and feet.[omim.org]
  • mental retardation small corpus callosum widened subarachnoid spaces Growth Height: short stature Skeletal Skull: wormian bones Skeletal Hands: brachydactyly large, broad hands metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara[malacards.org]
Progressive Mental Retardation
  • The main clinical features were short stature, abnormal face, skeletal deformities, and progressive mental retardation. Radiologically, there were epimetaphyseal changes and spine involvement. Brachydactyly was present in the hands and feet.[omim.org]
  • mental retardation small corpus callosum widened subarachnoid spaces Growth Height: short stature Skeletal Skull: wormian bones Skeletal Hands: brachydactyly large, broad hands metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara[malacards.org]
Coarse Facial Features
  • Atthat time coarse facial features, progressive delay inphysical and mental development, short stature andskeletal deformities were noted. The biochemical inves-tigations were normal. The skeletal survey revealed adistinctive, severe SEMD.[docslide.net]
Low Set Ears
  • […] joint contractures Skin Nails Hair Hair: low frontal hairline prominent eyebrows Skeletal Limbs: widened metaphyses small flattened epiphyses (distal femora and proximal tibiae) peg-like central prominence of distal tibial metaphyses Head And Neck Ears: low-set[malacards.org]
  • He could walk only with assistance.Facial abnormalities included low frontal hairline, slightly hypo-plastic midface, hypertelorism, depressed nasal bridge, broad nasaltip, prominent eyebrows and low set ears. The palate was high. Theneck was short.[docslide.net]
Brachydactyly
  • Nose: depressed nasal bridge broad nasal tip Skeletal Spine: platyspondyly odontoid hypoplasia exaggerated thoracic kyphosis Chest Ribs Sternum Clavicles And Scapulae: thin ribs anterior rib cupping prominent sternum inferior rib flaring Skeletal Feet: brachydactyly[malacards.org]
  • Brachydactyly was present in the hands and feet. The children were normal at birth.[omim.org]
  • Radiographic manifestations included mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly with hypoplastic middle and terminal[link.springer.com]
  • The known variant phenotypes are spondyloepiphyseal dysplasia Maroteaux type (Pseudo‐Morquio type 2), parastremmatic dysplasia, and familial digital arthropathy with brachydactyly.[doi.org]
Coxa Vara
  • vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face: midface hypoplasia low frontal hairline coarse facies Head And Neck Mouth: high-arched palate[malacards.org]
  • Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning[ghr.nlm.nih.gov]
  • Skeletal radiographies show platyspondyly and charac-teristic vertebral body shape with central indentation of end-plates, progressive, and severe metaphyseal changes, very smalland irregular proximal femoral epiphyses with severe coxa vara,absence of[docslide.com.br]
  • Radiological examination revealed platyspondyly, with increased intervertebral disk spaces, short bowed long bones with defective epiphyseal mineralization, cupping of the metaphyses, flat acetabular roof, coxa vara and short ribs, with a narrow chest[jiaomr.in]
  • Pseudohypoaldosteronism type 2 80 families 2848 30 families627 Nance-Horan syndrome 50 families Primary erythermalgia3274 Granulomatous arthritis of childhood 40 families 3222 30 families98762 Spinocerebellar ataxia type 12 40 families 33108 Camptodactyly-arthropathy-coxa-vara-pericarditis[fliphtml5.com]
Coxa Vara
  • vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face: midface hypoplasia low frontal hairline coarse facies Head And Neck Mouth: high-arched palate[malacards.org]
  • Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning[ghr.nlm.nih.gov]
  • Skeletal radiographies show platyspondyly and charac-teristic vertebral body shape with central indentation of end-plates, progressive, and severe metaphyseal changes, very smalland irregular proximal femoral epiphyses with severe coxa vara,absence of[docslide.com.br]
  • Radiological examination revealed platyspondyly, with increased intervertebral disk spaces, short bowed long bones with defective epiphyseal mineralization, cupping of the metaphyses, flat acetabular roof, coxa vara and short ribs, with a narrow chest[jiaomr.in]
  • Pseudohypoaldosteronism type 2 80 families 2848 30 families627 Nance-Horan syndrome 50 families Primary erythermalgia3274 Granulomatous arthritis of childhood 40 families 3222 30 families98762 Spinocerebellar ataxia type 12 40 families 33108 Camptodactyly-arthropathy-coxa-vara-pericarditis[fliphtml5.com]
Large Broad Hands
  • , broad hands metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face: midface hypoplasia low frontal hairline coarse facies[malacards.org]
Large Broad Hands
  • , broad hands metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face: midface hypoplasia low frontal hairline coarse facies[malacards.org]
Short Neck
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Eyes: hypertelorism pale optic discs prominent eyebrows Head And Neck Neck: short neck Head And Neck Nose: depressed nasal bridge broad nasal tip Skeletal Spine: platyspondyly odontoid hypoplasia[malacards.org]
  • Figure 1 Front view of patient 1 at 23 months showing depressed nasal bridge, short neck, short limbs, and prominent heels. Figure 2 Skeletal changes of patient 1 at 23 months.[jmg.bmj.com]
  • Short neck MedGen UID: 99267 • Concept ID: C0521525 • Finding Diminished length of the neck. Coronal cleft vertebrae MedGen UID: 320483 • Concept ID: C1834954 • Finding Frontal schisis (cleft or cleavage) of vertebral bodies.[ncbi.nlm.nih.gov]
  • On general physical examination, the patient was with short stature, short neck, and prominent lower third of the face. Her height was 130 cm. Pigeon chest was present and it was noted by the parents since birth.[jiaomr.in]
Psychomotor Regression
  • Patients present short stature, coarse facies, psychomotor regression and cognitive impairment.[orpha.net]
Dysarthria
  • In addition to the two disease-defining features of spondylometaphyseal dysplasia and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, spasticity, tremor, ataxia, dysarthria, cognitive defects, pulmonary hypertension[paperity.org]

Workup

Delayed Bone Age
  • bone age joint contractures Skin Nails Hair Hair: low frontal hairline prominent eyebrows Skeletal Limbs: widened metaphyses small flattened epiphyses (distal femora and proximal tibiae) peg-like central prominence of distal tibial metaphyses Head And[malacards.org]
Delayed Bone Age
  • bone age joint contractures Skin Nails Hair Hair: low frontal hairline prominent eyebrows Skeletal Limbs: widened metaphyses small flattened epiphyses (distal femora and proximal tibiae) peg-like central prominence of distal tibial metaphyses Head And[malacards.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Am J Med Genet A (2010) 0.75 [The influence of patient age and duration time of symptoms on the long-term outcome of surgical treatment].[pubrank.carbocation.com]
  • […] guanosine triphosphate–binding region Friday, 25 January 2019 0 comments 3 Taurine potentiates the anticonvulsive effect of the GABAA agonist muscimol and pentobarbital in the immature mouse hippocampus Friday, 25 January 2019 0 comments 2 Medication treatment[icnapedia.org]

Prognosis

  • PMID: 20503327 Prognosis Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K J Hum Genet 2017 Jun;62(6):653-655. Epub 2017 Feb 2 doi: 10.1038/jhg.2017.11.[ncbi.nlm.nih.gov]
  • Thoracic idiopathic scoliosis curve evolution and prognosis. Spine 1985; 10: 785–91 PubMed Google Scholar Ponseti IV, Pedrini V, Wynne-Davies R, Duval-Beaupere G. Pathogenesis of scoliosis.[link.springer.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology Am J Med Genet 2001 Jul 22;102(1):44-7.[ncbi.nlm.nih.gov]

Epidemiology

  • The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region. We assembled data from five datasets encompassing who...[medworm.com]
  • […] impact childhood development Monday, 28 January 2019 0 comments 5 Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy Friday, 25 January 2019 0 comments 1 Subacute sclerosing panencephalitis: clinical phenotype, epidemiology[icnapedia.org]
  • On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.[ncbi.nlm.nih.gov]
  • Therefore, these estimates are an indication of the assumed prevalence but may not «Disease names» AND Epidemiology[MeSH:NoExp] be accurate.[fliphtml5.com]
  • This update contains new epidemiological data and modifications to existing data for which new information has been made available.[azslide.com]
Sex distribution
Age distribution

Pathophysiology

  • This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia.[medworm.com]
  • Pathophysiology of spinal deformities in neurofibromatosis. An analysis of seventy-one patients who had curves associated with dystrophic changes. J Bone Joint Surg Am 1994; 76: 692–700 PubMed Google Scholar Gurd AR, Thompson TR.[link.springer.com]

Prevention

  • Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, Strudwick type .[ghr.nlm.nih.gov]
  • […] development Monday, 28 January 2019 0 comments 5 Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy Friday, 25 January 2019 0 comments 1 Subacute sclerosing panencephalitis: clinical phenotype, epidemiology, and preventive[icnapedia.org]
  • In conclusion, provision of WCRF-NL health promotion materials increases awareness and knowledge of lifestyle recommendations for cancer prevention among LS mutation carriers without causing additional distress, but does not affect adherence.[medworm.com]
  • ., 2012.CLASPs prevent irreversible multipolarity by ensuring spindle-pole resistance totraction forces during chromosome alignment. Nat. Cell Biol. 14, 295303.Lunter, G., Goodson, M., 2011.[documents.tips]

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