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]

• 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 “saddle” nose 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 Delayed ossification of carpal bones 0001216 Disproportionate short-limb short stature Short limb [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]

• 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]

• Depressed Nasal Bridge

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

  nasal bridge, metaphyseal striations, and disproportionate short stature. [hgsc.bcm.edu]

  They suggest that the condition be called “spondylometaphyseal dysplasia with midface hypoplasia and depressed nasal bridge”. [jmg.bmj.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]

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]

  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]

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]

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]

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]

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]

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