Edit concept Question Editor Create issue ticket

Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

SPONASTRIME Dysplasia


Presentation

  • 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]
  • 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]
  • We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD.[docksci.com]
Short Stature
  • 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]
  • SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.[manipal.pure.elsevier.com]
  • 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]
Progressive Mental Retardation
  • Mental retardation, progressive Progressive mental retardation [ more ] 0006887 Kyphoscoliosis 0002751 Laryngotracheomalacia 0008755 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension[rarediseases.info.nih.gov]
Soft Tissue Mass
  • On MRI, there is no associated soft tissue mass. 13 Although it has previously been reported in the upper limb, 14 to our knowledge it has never been seen bilaterally.[jmg.bmj.com]
Saddle Nose
  • 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]
  • Craniofacial: large head, frontal bossing, epicanthal folds, midface hypoplasia, broad and anteverted “saddlenose is characteristic, mild prognathism.[accessanesthesiology.mhmedical.com]
Abnormal Teeth
  • teeth Dental abnormalities Dental abnormality [ more ] 0000164 Autosomal recessive inheritance 0000007 Biconcave vertebral bodies 0004586 Coxa vara 0002812 Decreased circulating IgG level 0004315 Delayed ossification of carpal bones 0001216 Disproportionate[rarediseases.info.nih.gov]
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]
  • […] 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]
  • Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.[orpha.net]
  • 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]
  • SPONASTRIME DYSPLASIA , SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES Classification bone, developmental, genetic Phenotypes Abnormality of the dentition ; Anteverted nares ; Autosomal recessive inheritance ; Biconcave vertebral bodies ; Coxa[mousephenotype.org]
Extension of Elbows Limited
  • Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Lumbar interpedicular narrowing 0008486 Metaphyseal irregularity Irregular wide portion of a long[rarediseases.info.nih.gov]
Extension of Elbows Limited
  • Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Lumbar interpedicular narrowing 0008486 Metaphyseal irregularity Irregular wide portion of a long[rarediseases.info.nih.gov]
Knee Pain
  • She was mentally normal and complained of knee pain. No muscular weakness or muscular hypotonia was evident. Laboratory examinations were unremarkable other than increased serum creatine kinase (430 U/L).[updoc.site]
Coxa Valga
  • Although a combination of these malformations superficially resembles that of sponastrime dysplasia, several skeletal alterations including coxa valga with proximal femoral constriction, mild epiphyseal dysplasia of the long bones particularly in the[updoc.site]
Frontal Bossing
  • 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]
  • 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]
Low Nasal Root
  • nasal root [ more ] 0005280 Frontal bossing 0002007 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Malar flattening Zygomatic flattening 0000272 Mesomelia Disproportionately short middle portion of limb 0003027 Osteoporosis 0000939[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Frontal bossing 0002007 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938[rarediseases.info.nih.gov]
Shortened Nose
  • nose [ more ] 0003196 Spondyloepimetaphyseal dysplasia 0002651 30%-79% of people have these symptoms Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288[rarediseases.info.nih.gov]

Workup

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]
  • Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia 582 Acrofacial DysostosisNager Type 588 Asphyxiating Thoracic Dysplasia 597 BardetBiedl Syndrome 605 Campomelic Dysplasia 611 CHARGE Association 618 Brachytelephalangic[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]

Treatment

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

Prognosis

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

Etiology

Epidemiology

  • 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]
Sex distribution
Age distribution

Prevention

  • 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]
  • 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]
  • Management is aimed at maintaining mobility and preventing dislocations.[kundoc.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!