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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

nose ; Spondyloepimetaphyseal dysplasia ; Subglottic stenosis ; Thoracic kyphosis Associated Genes - Mouse Orthologs - Source OMIM:271510 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene [mousephenotype.org]

nose Decreased length of nose Shortened 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 [rarediseases.info.nih.gov]

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]

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]