American Journal of Medical Genetics 63(1): 20-27, 1996 Sponastrime dysplasia: presentation in infancy. Journal of Medical Genetics 38(12): 889-893, 2002 Sponastrime dysplasia: Presentation in infancy. [eurekamag.com]

The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an "oriental look" with midface hypoplasia and a saddle nose. [ncbi.nlm.nih.gov]

The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an “oriental look” with midface hypoplasia and a saddle nose. [semanticscholar.org]

We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. [docksci.com]

London WC1N 3JH, UK Dr Hall, hallc{at}gosh.nhs.uk Statistics from Altmetric.com E ditor —The case of a white female with sponastrime dysplasia is presented. [jmg.bmj.com]

• Short Stature

  SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. [research.ed.ac.uk]

  Lebanon Megarbane et al. (2003) reported the case of a 6-year old boy, born to non-consanguineous healthy parents, who was presented to the clinic for short stature. All his siblings were normal. [cags.org.ae]

  Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. [ncbi.nlm.nih.gov]

• Disability

  disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  Intellectual disability, progressive ; Kyphoscoliosis ; Laryngotracheomalacia ; Limited elbow extension ; Lumbar hyperlordosis ; Lumbar interpedicular narrowing ; Malar flattening ; Mesomelia ; Metaphyseal irregularity ; Metaphyseal striations ; Midface [mousephenotype.org]

  MACROCEPHALY/AUTISM SYNDROME Is also known as ; Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Pica Hypertelorism SOURCES: ORPHANET OMIM DOID UMLS MESH MONDO More info about MACROCEPHALY/AUTISM SYNDROME [mendelian.co]

  Although many affected individuals have normal intelligence, some cases have been reported with intellectual disability or mental retardation. [diseaseinfosearch.org]

  Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Decreased antibody level in blood 0004313 Intellectual disability [rarediseases.info.nih.gov]

• Saddle Nose

  Craniofacial: large head, frontal bossing, epicanthal folds, midface hypoplasia, broad and anteverted “saddle” nose is characteristic, mild prognathism. [accessanesthesiology.mhmedical.com]

  Sponastrime dysplasia : a radiologicpathologic correlation Pediatr Radio 1989 Prader A (1983) The sponastrime dysplasia: familial short-limb dwarfism with saddle nose, spine alterations and metaphyseal striation Helv Paediatr Acta 1983 [semanticscholar.org]

  The facial appearance is an "oriental look" with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). [ncbi.nlm.nih.gov]

• High Pitched Voice

  pitched voice Nephroblastoma Increased body weight Fibroma Premature ovarian insufficiency Cachexia Reduced tendon reflexes Hemangioma Pointed chin Microglossia Dental crowding Pigmentary retinopathy Abdominal distention Infertility Astigmatism Triangular [mendelian.co]

• Ectopia Lentis

  lentis 2 autosomal recessive juvenile Parkinson's disease 2 autosomal recessive limb-girdle muscular dystrophy + autosomal recessive non-syndromic intellectual disability + autosomal recessive nonsyndromic deafness + autosomal recessive osteopetrosis [rgd.mcw.edu]

• Coxa Vara

  Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses. [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]

  Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. [research.ed.ac.uk]

  Other occasional reported features include subglottic stenosis, bronchomalacia, avascular necrosis of hip, increased lordosis, scoliosis, progressive infantile coxa vara, and joint deformities. [accessanesthesiology.mhmedical.com]

  […] spo (spondylo), nas (nasal), strime (striated metaphyses) Growth Short stature Short-limb dwarfism Hematologic Hypogammaglobulinemia Performance Mental retardation Respiratory Laryngotracheomalacia Skeletal Biconcave vertebral bodies (later childhood) Coxa [datagenno.com]

• Platyspondyly

  Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. [ncbi.nlm.nih.gov]

  […] between short-trunk dwarfism and platyspondyly. [rrnursingschool.biz]

  […] distance Delayed bone age Delayed carpal bone ossification Flattened capital femoral epiphyses Hypoplastic epiphyses Irregular metaphyses Kyphoscoliosis Limited elbow extension Lumbar lordosis, increased Metaphyseal striations Mild mesomelia Osteopenia Platyspondyly [datagenno.com]

  Note the relative increase in height of the vertebral bodies (improved platyspondyly) and the mild osteopenia. Figure 3 Lateral spine at 2 years 6 months. The platyspondyly is less marked than in infancy. [jmg.bmj.com]

• Lordosis

  Other occasional reported features include subglottic stenosis, bronchomalacia, avascular necrosis of hip, increased lordosis, scoliosis, progressive infantile coxa vara, and joint deformities. [accessanesthesiology.mhmedical.com]

  The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). [ncbi.nlm.nih.gov]

  Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root. To date, 12 patients from 6 families have been reported. [eurekamag.com]

  The radiological findings include the spinal changes of lordosis, osteoporosis and pearshaped vertebrae, as well as striated metaphyses (osteopathia striata). [semanticscholar.org]

• Osteopenia

  Abstract We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. [ncbi.nlm.nih.gov]

  […] interpediculate distance Delayed bone age Delayed carpal bone ossification Flattened capital femoral epiphyses Hypoplastic epiphyses Irregular metaphyses Kyphoscoliosis Limited elbow extension Lumbar lordosis, increased Metaphyseal striations Mild mesomelia Osteopenia [datagenno.com]

  […] disability, progressive ; Kyphoscoliosis ; Laryngotracheomalacia ; Limited elbow extension ; Lumbar hyperlordosis ; Lumbar interpedicular narrowing ; Malar flattening ; Mesomelia ; Metaphyseal irregularity ; Metaphyseal striations ; Midface retrusion ; Osteopenia [mousephenotype.org]

  Note the relative increase in height of the vertebral bodies (improved platyspondyly) and the mild osteopenia. Figure 3 Lateral spine at 2 years 6 months. The platyspondyly is less marked than in infancy. [jmg.bmj.com]

• Macrocephaly

  Search Search for a rare disease Disease definition A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly [orpha.net]

  Orpha Number: 93357 Disease definition A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly [rarediseases.info.nih.gov]

• Frontal Bossing

  Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root (summary by Cooper et al., 2000). (271510) MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Sponastrime Type, also [malacards.org]

  Craniofacial: large head, frontal bossing, epicanthal folds, midface hypoplasia, broad and anteverted “saddle” nose is characteristic, mild prognathism. [accessanesthesiology.mhmedical.com]

  bossing, and relatively large head. [ncbi.nlm.nih.gov]

• Depressed Nasal Bridge

  SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. [research.ed.ac.uk]

  He had a coarse appearing face with a depressed nasal bridge, short, upturned nose, and midface hypoplasia. Intelligence was normal. A clinical evaluation at 6 years of age suggested the diagnosis of spondyloepiphyseal dysplasia (SED). [ncbi.nlm.nih.gov]

  nasal bridge and midface hypoplasia. [cags.org.ae]

  nasal bridge ; Disproportionate short-limb short stature ; Flat capital femoral epiphysis ; Frontal bossing ; Hypertelorism ; Intellectual disability ; Intellectual disability, progressive ; Kyphoscoliosis ; Laryngotracheomalacia ; Limited elbow extension [mousephenotype.org]

• Hypertelorism

  […] vertebral bodies ; Coxa vara ; Decreased circulating IgG level ; Delayed ossification of carpal bones ; Delayed skeletal maturation ; Depressed nasal bridge ; Disproportionate short-limb short stature ; Flat capital femoral epiphysis ; Frontal bossing ; Hypertelorism [mousephenotype.org]

  A 17-year-old male had hypertelorism, [findzebra.com]

  At birth: short trunk and limbs; small chest with short ribs and protruding abdomen; hypertelorism, flat face and cleft palate. Severe myopia with risk of retinal detachment. Lumbar hyperlordosis appears gradually. [sites.uclouvain.be]

  MACROCEPHALY/AUTISM SYNDROME Is also known as ; Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Pica Hypertelorism SOURCES: ORPHANET OMIM DOID UMLS MESH MONDO More info about MACROCEPHALY/AUTISM SYNDROME [mendelian.co]

  […] level 0004315 Delayed ossification of carpal bones 0001216 Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Flat capital femoral epiphysis Flat end part of innermost thighbone 0003370 Hypertelorism [rarediseases.info.nih.gov]

• Short Nose

  […] narrowing ; Malar flattening ; Mesomelia ; Metaphyseal irregularity ; Metaphyseal striations ; Midface retrusion ; Osteopenia ; Platyspondyly ; Posterior subcapsular cataract ; Relative macrocephaly ; Short dental roots ; Short nose ; Spondyloepimetaphyseal [mousephenotype.org]

  […] limb 0003027 Osteoporosis 0000939 Platyspondyly Flattened vertebrae 0000926 Rhizomelia Disproportionately short upper portion of limb 0008905 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Spondyloepimetaphyseal dysplasia 0002651 [rarediseases.info.nih.gov]

• Pierre Robin Syndrome

  […] sequence faciodigital anomaly Pierre Robin syndrome fetal chondrodysplasia Pierre Robin syndrome hyperphalangy clinodactyly Pierre Robin syndrome skeletal dysplasia polydactyly Pierre Robin's sequence Pigmentary retinopathy Pigment dispersion syndrome [sosu.us]

  syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar [se-atlas.de]

Clinical Testing and Workup Basic x-rays (radiography) can be used to provide a thorough, careful examination of the entire bone system (complete skeletal survey) in order to detect changes in the skeleton that are characteristic of SEDC. [rarediseases.org]

• Delayed Bone Age

  Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. [ncbi.nlm.nih.gov]

  bone age Delayed carpal bone ossification Flattened capital femoral epiphyses Hypoplastic epiphyses Irregular metaphyses Kyphoscoliosis Limited elbow extension Lumbar lordosis, increased Metaphyseal striations Mild mesomelia Osteopenia Platyspondyly [datagenno.com]

  Fragility 516 Multiple Radiolucent Defects Lytic Lesions 527 Osteolyses 538 Delayed Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia 582 Acrofacial DysostosisNager Type 588 Asphyxiating Thoracic Dysplasia 597 [books.google.es]

  […] of pelvic inlet Capitate-hamate fusion, delayed bone age Delayed bone age, platyspondyly with central notches of vertebral end-plates Premature stippled calcification (epiphyses, trachea, bronchia, costochondral junctions), dumbbell-shaped bones 36 V [kundoc.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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

[…] form vertebral hypoplasia femoral head flattening and late epiphyseal development large and dolichocephalic skull metaphyseal widening with rhizomelic shortening odontoid process hypoplasia absent calcaneal and knee epiphysis at birth Treatment and prognosis [radiopaedia.org]

Etiology of this condition is unknown. [ncbi.nlm.nih.gov]

Spondylolysis and spondylolisthesis: a narrative review of etiology, diagnosis, and conservative management. [physio-pedia.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Relevant External Links for SEMA3A Genetic Association Database (GAD) SEMA3A Human Genome Epidemiology (HuGE) Navigator SEMA3A Atlas of Genetics and Cytogenetics in Oncology and Haematology: SEMA3A No data available for Genatlas for SEMA3A Gene The semaphorin [genecards.org]

Epidemiology /Etiology[edit | edit source] Spondylolysis affects 3-6% of the population. [1][2][3] This condition appears in the first or second decade of life; the frequency of spondylolysis increases with age until 20 years. [4][5] There is, however [physio-pedia.com]

Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous [findzebra.com]

Regular eye (ophthalmologic) exams are required to detect and assess nearsightedness and to prevent retinal detachment. Retinal detachment can be repaired surgically. [rarediseases.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] X-linked spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males [icdlist.com]

[…] motion at the injured pars and allow bony repair [17] physical therapy When severe pain is persistent, progression to spondylolisthesis needs to be prevented: surgical treatment may be required. [physio-pedia.com]