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Spondylocheirodysplastic Ehlers-Danlos Syndrome

EDS Spondylocheirodysplastic Type


Presentation

  • Repeated pneumothoraces 7 : Can be the initial presentation.[adc.bmj.com]
  • Severe Zn deficiency, as seen... more Zinc transporter LIV-1 (SLC39A6) is estrogen regulated and present in increased amounts in estrogen receptor–positive breast cancer as well as in tumors that spread to the lymph nodes.[scinapse.io]
  • EDS Spondylocheirodysplastic Ehlers-Danlos syndrome spEDS-SLC39A13 Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q79.6 OMIM: 612350 UMLS: C2676510 MeSH: - GARD: 12610 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Presents the only scientific reference to cover all of the nutritionally relevant essential major and trace minerals Provides a broad introductory chapter on each mineral to give readers valuable background and context Clarifies the cellular and molecular[books.google.es]
  • Acronym EDSSPD3 Synonyms Ehlers-Danlos syndrome-like spondylocheirodysplasia SCD-EDS Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Easy Bruising
  • Features of vascular EDS Easy bruising: This can be seen at sites not prone to trauma and is often the presenting sign in childhood. Child protection agencies may have been involved due to this prominent feature.[adc.bmj.com]
  • During childhood, patients may present to the pediatrician with complaints as diverse as hypotonia or delayed neuromotor development, easy bruising, or abnormal wound healing.[link.springer.com]
  • A non-glycine sequence variant (P435T) of the COL3A1 gene associated with an autosomal dominant syndrome of joint hyperlaxity, easy bruising, pelvic organs prolapses, premature rupture of the membranes and rectal bleeding.[ncbi.nlm.nih.gov]
Failure to Thrive
  • Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. [ read more ] 7568194 16385448 SLC40A1 causing HFE4[nectarmutation.org]
Blue Sclera
  • The clinical features include redundant, sagging, fragile skin, delayed closure of the fontanelles, blue sclerae, umbilical hernia and short stature. 24 Most patients have a very severe phenotype presenting at birth, but some have milder manifestations[adc.bmj.com]
Antimongoloid Slant
  • slant • Varicose veins or hernia or uterine/rectal prolapse * The diagnosis of benign joint hypermobility syndrome (BJHS) requires the presence of 2 major criteria, or 1 major 2 minor criteria, or 4 minor criteria, or 2 minor criteria and an unequivocally[studyslide.com]
Finely Wrinkled Palms
  • Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers.[uniprot.org]
  • Get Update Overview Ehlers-Danlos syndrome spondylodysplastic type 3 is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features ({2:Giunta[diseaseinfosearch.org]
  • Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers.[rprotein.com]
  • The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering[ncbi.nlm.nih.gov]
Thin Skin
  • ., epicondylitis, tensosynovitis, bursitis)Marfanoid habitus (tall, slim, span:height ratio 1.03, upper: lower segment 0.89, arachnodactyly)Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarringEye signs: drooping eyelids or myopia[documents.tips]
  • ., epicondylitis, tensosynovitis, bursitis) • Marfanoid habitus (tall, slim, span:height ratio 1.03, upper: lower segment 0.89, arachnodactyly) • Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring • Eye signs: drooping eyelids[studyslide.com]
Delayed Wound Healing
  • Other effects of Zn deficiency include skin changes, poor appetite, mental lethargy, delayed wound healing, neurosensory disorders, and cell-mediated immune disorders.[scinapse.io]
  • wound healing. 20 – 22 Arthrochalasic EDS Arthrochalasic EDS (MIM 130060) is extremely rare. 23 Congenital bilateral hip dislocation, severe joint hypermobility with recurrent dislocations, skin hyperextensibility, easy bruising, atrophic scars, kyphoscoliosis[adc.bmj.com]
Suggestibility
  • Discovery of this pathway suggests the proteasome as a potential therapeutic target for regulation of iron storage.[scinapse.io]
  • These data suggest an entity that we have designated "spondylocheiro dysplastic form of EDS (SCD-EDS)" to indicate a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition[ncbi.nlm.nih.gov]
  • These data suggest a novel entity which we have designated spondylocheiro dysplastic form of EDS (SCD-EDS) to indicate a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in[ashg.org]
  • Sample Preparation We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit.[mybiosource.com]
  • This suggests that ZIP13 may manage intracellular zinc levels by directing the release of zinc from the Golgi. Fukada and colleagues also discovered that ZIP13 features a largely unstructured loop domain that extends outside the membrane.[phys.org]

Treatment

  • Tarsal Cyst Causes, Symptoms, Diagnosis and Treatment Major Breakthrough in Treating Phantom Ringing in Ears Caused by Tinnitus Toxic Shock Syndrome Causes, Symptoms, Diagnosis and Treatment Lockjaw Causes, Symptoms, Diagnosis and Treatment Eczema Is[pinterest.pt]
  • 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]
  • Broaden your knowledge with updated information on serological diagnosis of pemphigus, TNF-I for hidradenitis suppurativa, the use of immunosuppressives for atopic dermatitis, excimer laser for the treatment of vitiligo and much more.[books.google.es]
  • Early recognition and treatment of complications There is no specific treatment for Ehlers-Danlos syndrome. Trauma should be minimized. Protective clothing and padding may help. If surgery is done, hemostasis must be meticulous.[merckmanuals.com]
  • Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.[medlineplus.gov]

Prognosis

  • Due to different clinical symptoms, natural history and prognosis, EDS type IV should be assessed separately within the group of EDS.[ncbi.nlm.nih.gov]
  • Prognosis The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis.[medical-dictionary.thefreedictionary.com]

Etiology

  • Arthrochalasia Type (VIIA/B) Major Criteria • Severe joint laxity with recurrent dislocations in many joints • Congenital, bilateral hip dislocation Inheritance Autosomal dominant Arthrochalasia Type Etiology Mutations in either COL1A1 or COL1A2 that[studyslide.com]
  • Brittle cornea syndromePRDM5ZNF469Spondylocheiro dysplasticMusculocontractural/adducted thumb clubfoot/KoshoD4ST1 deficient EDSTenascin-X deficiencyEhlers-Danlos Syndromes--EtiologyEDS TypeGenetic DefectInheritance ClassicalType V collagen (60%)Dominant[documents.tips]

Epidemiology

  • (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60 The LZT proteins; the LIV-1[genecards.org]
  • Epidemiology The Ehlers-Danlos syndromes are a group of hereditary disorders of connective tissue, whose prevalence is estimated between 1/10,000 and 1/25,000, with no ethnic predisposition.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Prevention

  • (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 45 60 The LZT proteins; the LIV-1[genecards.org]
  • It also includes learning how to protect your joints and prevent injuries.[medlineplus.gov]
  • Treatment Medical therapy relies on managing symptoms and trying to prevent further complications. There is no cure for EDS.[medical-dictionary.thefreedictionary.com]
  • Mutations in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly.[ghr.nlm.nih.gov]
  • Research prospects The value of long-term beta blocker treatment (celiprolol) to prevent vascular complications in EDS type IV [ 58 ] is currently the subject of a controlled clinical trial (ClinicalTrials.gov Identifier: NCT00190411).[ncbi.nlm.nih.gov]

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