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Smith-McCort Dysplasia

SMC2


Presentation

  • Radiographic features of a 15-year-old boy with Smith-McCort dysplasia are presented. Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia.[ncbi.nlm.nih.gov]
  • Here we present three SMC patients with four novel pathogenic variants in RAB33B, including homozygosity for c.211C T (p.R71*), homozygosity for c.365T C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs*58) and c.490C T (p.Q164*).[ncbi.nlm.nih.gov]
  • This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • Acronym SMC1 Synonyms SMC Smith-McCort dysplasia Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Short Stature
  • There was a healthy sib, and no other cases of short stature in the family. Her short stature was noticed at age 1 month. She began to walk when she was 18 months old. At age 62 12 years, she was referred for short stature.[updoc.site]
  • Individuals with these disorders share many features including disproportionate short stature, a short barrel shaped chest with sternal protrusion, microcephaly, and epiphyseal and metaphyseal irregularities. read more[ctgt.net]
  • stature/skeletal dysplasia (94.0% **) ** % of the coding region of this gene has a coverage of 20x.[order.radboudumc.nl]
  • Individuals with these disorders share many features including disproportionate short stature, a short barrel shaped chest with sternal protrusion, and epiphyseal and metaphyseal irregularities. read more 2 Panel Genes: DYM, RAB33B Next Generation Sequencing[ctgt.net]
  • stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Genu valgum Knock knees 0002857 Genu varum Outward[rarediseases.info.nih.gov]
Physician
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Camping
  • Swedish Medical Center (Washington; Colorado) SMC Swathanthra Malayalam Computing (India) SMC Software Model Checking SMC Special Metals Corporation (various locations) SMC Shambhala Mountain Center (meditation center; Feather Lakes, CO) SMC Summer Music Camp[acronyms.thefreedictionary.com]
Barrel Chest
  • D: At the age of 10 years the radiographs show broadupper os ileum, at acetabulumwith irregular contours, and hypoplastic femoral heads.E: Patient 3 at the age of 14monthsmanifests thick eyebrows, slight short trunk,and mild barrel chest.[docslide.com.br]
  • Showing of 25 Percent of people who have these symptoms is not available through HPO Atlantoaxial instability 0003467 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Beaking of vertebral bodies 0004568 Deformed sella turcica[rarediseases.info.nih.gov]
Barrel Chest
  • D: At the age of 10 years the radiographs show broadupper os ileum, at acetabulumwith irregular contours, and hypoplastic femoral heads.E: Patient 3 at the age of 14monthsmanifests thick eyebrows, slight short trunk,and mild barrel chest.[docslide.com.br]
  • Showing of 25 Percent of people who have these symptoms is not available through HPO Atlantoaxial instability 0003467 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Beaking of vertebral bodies 0004568 Deformed sella turcica[rarediseases.info.nih.gov]
Dolichocephaly
  • Back to: « Smith-McCort dysplasia Symptoms of Smith-McCort dysplasia type 1 Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Deformed sella turcica Dolichocephaly Hypoplastic facial bones Microcephaly Abnormality[familydiagnosis.com]
  • 0004568 Deformed sella turcica 0002681 Delayed femoral head ossification 0008829 Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Dolichocephaly[rarediseases.info.nih.gov]
Trunk Shortness
  • short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Genu valgum Knock knees 0002857 Genu varum[rarediseases.info.nih.gov]
Short Neck
  • Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological[monarchinitiative.org]
  • Homepage Rare diseases Search Search for a rare disease Smith-McCort dysplasia Disease definition Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short[orpha.net]
  • Orpha Number: 178355 Disease definition Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb[rarediseases.info.nih.gov]
Waddling Gait
  • gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 25 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]

Workup

Shortened Long Bone
  • long bone of hand 0010049 Short phalanx of finger Short finger bones 0009803 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 25 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]

Treatment

  • Treatments are related to extent of deformity, remodeling post-surgery and possible recurrence. This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.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 resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.[rarediseases.info.nih.gov]

Prognosis

  • The clinical importance of this rare disorder may be attributed to its clinical similarity to JIA, which has a very different prognosis and treatment regimen.[deepdyve.com]
  • Methods: We investigated expression of PSC markers CD44, Musashi-1 and CD133 in relation to gastric carcinogenesis and prognosis and chemoresponse.[nature.com]
  • Pulmonary infections following immunosuppressive treatments during hospitalization worsen the short-term vital prognosis for patients with connective tissue disease-associated interstitial pneumonia.[mhlw.go.jp]

Etiology

  • Etiology mutations in the FLJ90130 gene ( 12491225 ) (18q12)[humpath.com]
  • Get a balanced view of etiology, diagnosis, and management, and access unique guidance on the practical problems encountered in real-life clinical cases. Impresses the importance of systemic disease in diagnosis and management.[books.google.it]
  • Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause.[geneeskundeboek.nl]
  • Defects in protein glycosylation lead to diseases of varied etiology ranging from muscular [ 28 ] to multi-system disorders such as the conserved oligomeric Golgi (COG) complex-dependent human glycosylation disorders [ 26 ].[mdpi.com]

Epidemiology

  • Ferguson-Smith type Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Prevention

  • (PDQ ): Prevention - Health Professional Information [NCI] Skin Cancer Prevention (PDQ ): Prevention - Patient Information [NCI] Skin Cancer Screening (PDQ ): Screening - Health Professional Information [NCI] Skin Cancer Screening (PDQ ): Screening -[healthmedicinet.com]
  • Inserm, U1141, Paris, France, Sorbonne Paris Cité, Univ Paris Diderot, UMRS 1141, Paris, France, HIP/PAP prevents excitotoxic neuronal death and promotes plasticity. Ann Clin Transl Neurol 2014 Oct 9;1(10):739-54. Epub 2014 Oct 9.[pubfacts.com]
  • For long term storage, store at -20C in small aliquots to prevent freeze-thaw cycles. Concentration: Batch dependent within range: 100 ul at 0.5 - 1 mg/ml Product Reviews[avivasysbio.com]
  • Atlantoaxial instability— induced spinal cord compression is a serious and preventable complication.[thejns.org]
  • Smith-Pe·ter·sen nail ( smith pē'tĕr-sĕn nāl ) A fluted nail used to stabilize fractures of the femoral neck by preventing rotation of the fragments.[medical-dictionary.thefreedictionary.com]

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