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Spondyloepiphyseal Dysplasia Type Cantú

SED-BDS


Presentation

  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • Severe nearsightedness (high myopia ) is sometimes present, as are other eye problems that can affect vision such as detached retinas.[en.wikipedia.org]
  • The documents contained in this web site are presented for information purposes only. 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]
  • Thus, the SEMDIT allele was probably present in the first natives of Jalisco, MCxico.[docslide.com.br]
Macrostomia
  • […] convertase I deficiency 16 cases 844 Ballard syndrome 12 cases71528 Orbital leiomyoma 16 cases 93395 Coloboma of macula - brachydactyly type B 12 cases52994 Orofaciodigital syndrome type 4 16 cases 1471 Congenital atransferrinemia 12 cases2753 Ablepharon macrostomia[fliphtml5.com]
Short Hands
  • May 1, 2017 By Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities.[checkrare.com]
  • hands small carpals short, tapered phalanges single interphalangeal crease of fifth finger more Head And Neck Eyes: blepharophimosis curly eyelashes upslanting palpebral fissures curly eyebrows Skeletal: small epiphyses spondyloepiphyseal dysplasia mild[malacards.org]
  • A person with SED-BDS will be shorter than most other people and will have short hands and feet. SED-BDS will cause someone to have a coarse voice. A coarse voice may also be described as hoarse or raspy.[crm.diseaseinfosearch.org]
  • hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).[rarediseases.info.nih.gov]
Short Neck
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal Limbs: cubitus valgus rhizo-meso-acromelic limb shortening short long bones limited[malacards.org]
  • Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized. Final adult height usually ranges between 2.8 and 4.2 feet (84-128cm).[rarediseases.org]
  • neck Decreased length of neck 0000470 Short thorax Shorter than typical length between neck and abdomen 0010306 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick lower lip vermilion Increased[rarediseases.info.nih.gov]
Wide Neck
  • Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal Limbs: cubitus valgus rhizo-meso-acromelic limb shortening short long bones limited[malacards.org]
  • neck [ more ] 0000475 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Cubitus valgus Outward turned elbows 0002967 Cuboid-shaped vertebral bodies 0004634 Curly eyelashes 0007665 Curly hair 0002212 Delayed skeletal maturation Delayed[rarediseases.info.nih.gov]
Round Face
  • face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease of fifth finger more Head And Neck Eyes: blepharophimosis curly eyelashes upslanting palpebral fissures[malacards.org]
  • face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand 0010049 Short palm 0004279 Short phalanx of finger Short finger bones 0009803[rarediseases.info.nih.gov]
Speech Disorders
  • Spondyloepiphyseal dysplasia, Cantu type SED-BDS Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Tattoo dysplasia Fantasy Island Syndrome Get Update Latest News Source: Google News using the search term "Spondyloepiphyseal dysplasia-brachydactyly[crm.diseaseinfosearch.org]

Workup

  • 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]

Treatment

  • 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]
  • 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.[crm.diseaseinfosearch.org]
  • Treatment [ edit ] Treatment for SEDc varies because the condition affects several body systems, and each child’s case is different. Some children will only require careful monitoring.[en.wikipedia.org]
  • Standard Therapies Treatment Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]

Etiology

  • Elsevier Health Sciences, ١٨‏/٠٨‏/٢٠١٣ - 979 من الصفحات 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[books.google.com]
  • Date: 2013 ISBN 10: 1455738115 ISBN 13: 9781455738113 eISBN: 9780323398275 Edition: 7th 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[r2library.com]
  • Etiology SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). Genetic counseling The inheritance is autosomal dominant. The documents contained in this web site are presented for information purposes only.[orpha.net]

Epidemiology

  • Summary Epidemiology The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected.[orpha.net]
  • Therefore, these estimates are an indication of the assumed prevalence but may not «Disease names» AND Epidemiology[MeSH:NoExp] be accurate.[fliphtml5.com]
Sex distribution
Age distribution

Prevention

  • Regular eye (ophthalmologic) exams are required to detect and assess nearsightedness and to prevent retinal detachment. Retinal detachment can be repaired surgically.[rarediseases.org]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. [ citation needed ] Spondyloepiphyseal dysplasia congenita is inherited[en.wikipedia.org]
  • Genetics, Genetic Counseling, and Prevention 4. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes 5. Normal Standards Appendix I Pattern of Malformation Differential Diagnosis by Anomalies[amazon.co.jp]
  • Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia. American Journal of Human Genetics, 97 (6), 837-847. Fennell, N., Foulds, N., Johnson, D. S., Wilson, L. C., Wyatt, M., Robertson, S. P., Johnson, D., Wall, S.[otago.ac.nz]

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