Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S. [globalgenes.org]

American Journal Of Medical Genetics. 78(1): 61-66, E 16 1998 We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior [eurekamag.com]

(V fivalu 84, CS-150 06 Praha 5-Motol, CSSR) 33, 15 (1978) Present possibilities of diagnosis and treatment of osteo- sarcoma in children. [docslide.net]

• Short Stature

  Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening Ovoid vertebral bodies Rounded epiphyses Short long bone Spondylometaphyseal [familydiagnosis.com]

  * Short arms * Short legs * Short stature Prevention - Spondylometaphyseal dysplasia- east-African type Not supplied. [checkorphan.org]

  Showing of 13 Percent of people who have these symptoms is not available through HPO Bell-shaped thorax 0001591 Brachydactyly Short fingers or toes 0001156 Coxa vara 0002812 Disproportionate short stature 0003498 Disproportionate short-limb short stature [rarediseases.info.nih.gov]

  Dysmorphism, and Hypotrichosis; SOFT OMIM:614800 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly; SOPH OMIM:617164 Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay; SRMMD OMIM:601350 Short Stature Syndrome [informatics.jax.org]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

• Disproportionate Short Stature

  Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening Ovoid vertebral bodies Rounded epiphyses Short long bone Spondylometaphyseal [familydiagnosis.com]

  Showing of 13 Percent of people who have these symptoms is not available through HPO Bell-shaped thorax 0001591 Brachydactyly Short fingers or toes 0001156 Coxa vara 0002812 Disproportionate short stature 0003498 Disproportionate short-limb short stature [rarediseases.info.nih.gov]

  Spondylometaphyseal dysplasia MedGen UID: 147134 • Concept ID: C0700635 • Finding The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses [ncbi.nlm.nih.gov]

• Anemia

  Abnormalities, Short Stature, and Fibular Hypoplasia acromesomelic dysplasia Acropectorovertebral Dysplasia Akaba Hayasaka Syndrome Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia anauxetic dysplasia 1 Anauxetic Dysplasia 2 Anemia [rgd.mcw.edu]

  OMIM:608567 Sick Sinus Syndrome 1; SSS1 OMIM:163800 Sick Sinus Syndrome 2; SSS2 OMIM:614090 Sick Sinus Syndrome 3, Susceptibility To; SSS3 OMIM:300263 Siderius X-Linked Mental Retardation Syndrome; MRXSSD OMIM:616084 Sideroblastic Anemia with B-Cell [informatics.jax.org]

• Short Finger

  Showing of 13 Percent of people who have these symptoms is not available through HPO Bell-shaped thorax 0001591 Brachydactyly Short fingers or toes 0001156 Coxa vara 0002812 Disproportionate short stature 0003498 Disproportionate short-limb short stature [rarediseases.info.nih.gov]

• Diarrhea

  Seckel Syndrome 6; SCKL6 OMIM:614851 Seckel Syndrome 7; SCKL7 OMIM:615807 Seckel Syndrome 8; SCKL8 OMIM:616777 Seckel Syndrome 9; SCKL9 OMIM:269630 Second Metatarsal-Metacarpal Syndrome OMIM:269650 Secretory Component Deficiency OMIM:607540 Secretory Diarrhea [informatics.jax.org]

• Ectopia Lentis

  Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Leukoencephalopathy with Metaphyseal [rgd.mcw.edu]

• Skeletal Dysplasia

  Patient Registry The International Skeletal Dysplasia Registry supports research for Spondylometaphyseal dysplasia East-African type by collecting information about patients with this diagnosis. [rarediseases.info.nih.gov]

  Dysplasia Ellis-Van Creveld syndrome Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness Epiphyseal Dysplasia, Baumann Type Epiphyseal Dysplasia, Multiple, with Miniepiphyses Epiphyseal Dysplasia, Multiple, with Myopathy Epiphyseal Dysplasia, [rgd.mcw.edu]

  Spondylometaphyseal dysplasia（SMD）is a rare form of skeletal dysplasia with characteristic radiographic findings. [webview.isho.jp]

• Brachydactyly

  Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening Ovoid vertebral bodies Rounded epiphyses Short long bone Spondylometaphyseal [familydiagnosis.com]

  Showing of 13 Percent of people who have these symptoms is not available through HPO Bell-shaped thorax 0001591 Brachydactyly Short fingers or toes 0001156 Coxa vara 0002812 Disproportionate short stature 0003498 Disproportionate short-limb short stature [rarediseases.info.nih.gov]

  Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly Metaphyseal Dysplasia without Hypotrichosis Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy Metaphyseal Dysplasia, Braun-Tinschert Type Metaphyseal Undermodeling, Spondylar [rgd.mcw.edu]

  Osteoarthritis and/or Osteochondritis Dissecans; SSOAOD OMIM:609654 Short Stature and Facioauriculothoracic Malformations OMIM:602471 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities; SAMS OMIM:617157 Short Stature, Brachydactyly [informatics.jax.org]

• Coxa Vara

  Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening Ovoid vertebral bodies Rounded epiphyses Short long bone Spondylometaphyseal [familydiagnosis.com]

  Showing of 13 Percent of people who have these symptoms is not available through HPO Bell-shaped thorax 0001591 Brachydactyly Short fingers or toes 0001156 Coxa vara 0002812 Disproportionate short stature 0003498 Disproportionate short-limb short stature [rarediseases.info.nih.gov]

  症例報告 脊椎骨幹端異形成症に伴う内反股に対し矯正骨切りを行った1例 Surgical Correction of Coxa Vara in a Patient with Spondylometaphyseal Dysplasia. [webview.isho.jp]

• Short Arm

  * Short arms * Short legs * Short stature Prevention - Spondylometaphyseal dysplasia- east-African type Not supplied. [checkorphan.org]

• Short Legs

  * Short arms * Short legs * Short stature Prevention - Spondylometaphyseal dysplasia- east-African type Not supplied. [checkorphan.org]

• Dysarthria

  Senior-Loken Syndrome 7; SLSN7 OMIM:616307 Senior-Loken Syndrome 8; SLSN8 OMIM:616629 Senior-Loken Syndrome 9; SLSN9 OMIM:602340 Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth OMIM:607459 Sensory Ataxic Neuropathy, Dysarthria [informatics.jax.org]

• Spastic Quadriplegia

  Quadriplegia, Retinitis Pigmentosa, and Mental Retardation OMIM:616657 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly; SPATCCM OMIM:313000 Spatial Visualization, Aptitude for OMIM:245480 Specific Granule Deficiency 1; SGD1 OMIM [informatics.jax.org]

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

Treatment - Spondylometaphyseal dysplasia- east-African type Not supplied. Resources - Spondylometaphyseal dysplasia- east-African type Not supplied. [checkorphan.org]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

(V fivalu 84, CS-150 06 Praha 5-Motol, CSSR) 33, 15 (1978) Present possibilities of diagnosis and treatment of osteo- sarcoma in children. [docslide.net]

Prognosis - Spondylometaphyseal dysplasia- east-African type Not supplied. Treatment - Spondylometaphyseal dysplasia- east-African type Not supplied. Resources - Spondylometaphyseal dysplasia- east-African type Not supplied. [checkorphan.org]

PMID: 1481828 Prognosis Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium., Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE J Med Genet 2014 Jul;51(7):470-4. [ncbi.nlm.nih.gov]

Etiology Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald [ncbi.nlm.nih.gov]

Children's Hosp. of Philadelphia, Philadelphia, PA, USA) 119, 671 (1978) Glomerulocystic kidney: Proposed etiology and pathogenesis. Sellers, B., Richie, J. P. [docslide.net]

[…] east-African type * Bracket-shaped metaphyses * Dysplastic pelvis * Irregular iliac rim * Oval-shaped vertebrae * Short stature * Short arms * Short legs Causes - Spondylometaphyseal dysplasia- east-African type * Short arms * Short legs * Short stature Prevention [checkorphan.org]