Repeated pneumothoraces 7 : Can be the initial presentation. [adc.bmj.com]

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]

Indeed, the clinical presentation of our patient was suggestive for B4GALT7 -deficiency, since she presented narrow mouth, wide forehead, and single transverse palmar crease that were described only in spEDS- B4GALT7. [ojrd.biomedcentral.com]

Central nervous system (CNS) abnormalities are also present in some patients. [documentslide.com]

• Short Stature

  Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ). [ojrd.biomedcentral.com]

  […] type Short stature, Brussels type Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Shwachman-Diamond syndrome Silver-Russell syndrome Silver-Russell [se-atlas.de]

  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]

  […] disease SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Disease definition Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short [orpha.net]

• Weakness

  Genetic abnormalities in the manufacturing of collagen within the body affect connective tissues, causing them to be abnormally weak. [medical-dictionary.thefreedictionary.com]

  This subtype is especially associated with developmental delay and muscular weakness plus hypotonia. [rarediseases.org]

  […] in all patients thought to have kyphoscoliotic EDS, but where urine crosslinking is normal and no mutations are found in PLOD1, particularly if there is sensorineural hearing impairment. 19 The severe generalised hypotonia at birth with marked muscle weakness [adc.bmj.com]

  Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. [ghr.nlm.nih.gov]

• 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]

  […] subluxations Skin hyperextensibility with easy bruising; tissue fragility with atrophic scars; muscle hypotonia; kyphoscoliosis, mild osteopenia Dermatosparaxis Autosomal recessive Type VIIC Severe skin fragility; marked bruising; saggy, redundant skin [emedicine.medscape.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]

  Our patient displays many of the typical DD-EDS (ATCS) features including congenital contractures, talipes equinovarus, thin skin with easy bruising, and craniofacial abnormalities. [documentslide.com]

• Osteopenia

  Radiologic features include mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). [uniprot.org]

  […] related spondylodysplastic Ehlers-Danlos syndrome Disease definition Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia [orpha.net]

  Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). [rprotein.com]

  The skeletal dysplasia comprises platyspondyly with moderate short stature, osteopenia, and widened metaphyses. [ncbi.nlm.nih.gov]

• Platyspondyly

  Radiologic features include mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). [uniprot.org]

  Search Search for a rare disease SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Disease definition Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly [orpha.net]

  Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). [rprotein.com]

  The skeletal dysplasia comprises platyspondyly with moderate short stature, osteopenia, and widened metaphyses. [ncbi.nlm.nih.gov]

• Hyperlaxity

  Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Basal epidermolysis bullosa simplex Body skin hyperlaxity [se-atlas.de]

  Later in life, patients may present to the hematologist due to unexplained bleeding diathesis; to the rheuma-tologist with complaints of joint hyperlaxity and arth-ralgias; to the orthopedic surgeon due to recurrent dislocations; or to the (vascular) [link.springer.com]

  Her fragility-related presentations, however, made the diagnosis of MWS alone questionable, as hematomas, skin hyperlaxity, and impaired wound healing have been reported in only one patient with MWS [Theys et al., 2011]. FIG. 2. [documentslide.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]

• Osteoporosis

  The diagnosis of osteoporosis was documented by a t-score ≤−2.5 in the lumbar spine or proximal femur, or by the presence of a low-trauma fracture. Patients with secondary causes of osteoporosis were excluded. [clinchem.aaccjnls.org]

  […] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital [se-atlas.de]

  Mice deficient in small leucine-rich proteogly-cans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers— Danlos syndrome, muscular dystrophy, and corneal diseases. [link.springer.com]

  […] syndrome AR q12 13 LRP5 LDL-receptor related protein 5 Calvarial doughnut lesions with bone fragility AD Idiopathic juvenile osteoporosis SP Some patients reported with heterozygous mutations in the LRP5 gene Cole-Carpenter dysplasia SP See also craniosynostosis [docplayer.net]

• Severe Short Stature

  Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ). [ojrd.biomedcentral.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

  striae, hyperextensibility, thin skin, papyraceous scarringEye signs: drooping eyelids or myopia or antimongoloid slantVaricose veins or hernia or uterine/rectal prolapse* The diagnosis of benign joint hypermobility syndrome (BJHS) requires the presence [myslide.es]

  Vascular EDS Major Diagnostic Criteria • Thin translucent skin • Extensive bruising • Characteristic facial appearance • Organ rupture Inheritance: Autosomal dominant Genetic cause: COL3A1 (type III collagen) Incidence: 1 in 15,000--20,000 • Purpura • [studyslide.com]

  easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. [mendelian.co]

  Our patient displays many of the typical DD-EDS (ATCS) features including congenital contractures, talipes equinovarus, thin skin with easy bruising, and craniofacial abnormalities. [documentslide.com]

• Dermatitis

  Stay up to date with recent society guidelines, including the latest from the American Academy of Dermatology, covering a variety of conditions such as melanoma and atopic dermatitis. [books.google.es]

  The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. [ read more ] 12068297 12032886 14702039 12787121 SLC3A1 causing CSNU 220100 The disease is caused by mutations [nectarmutation.org]

• Skin Disease

  Effectively diagnose and treat a wide range of skin conditions with the latest edition of the highly regarded Andrews’ Diseases of the Skin: Clinical Dermatology. The 12th edition of this classic reference, by esteemed authors William D. [books.google.es]

• Bluish Sclerae

  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]

  sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. [orpha.net]

  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]

• Blue Sclera

  In addition, she showed some common gene-specific minor criteria, i.e., blue sclerae, sparse scalp hair, flat face, osteopenia, and joint hypermobility, but none of those that are unique of the other types (Table 2 ). [ojrd.biomedcentral.com]

  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]

  Top 5 symptoms associated to SLC39A13 gene Symptoms // Phenotype % Cases Autosomal recessive inheritance Very Common - Between 80% and 100% cases Short femoral neck Very Common - Between 80% and 100% cases Blue sclerae Very Common - Between 80% and 100% [mendelian.co]

  Patients may have blue sclera. Spondylodysplastic type (spEDS) spEDS, previously spondylocheirodysplastic type, describes an EDS variant with skeletal dysmorphology. It primarily involves the spine and the hands. [rarediseases.org]

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]

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

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]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Brittle cornea syndromePRDM5ZNF469Spondylocheiro dysplasticMusculocontractural/adducted thumb clubfoot/KoshoD4ST1 deficient EDSTenascin-X deficiencyEhlers-Danlos Syndromes--EtiologyEDS TypeGenetic DefectInheritance ClassicalType V collagen (60%)Dominant [myslide.es]

(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]

Stone Springer Science & Business Media, 3 Oct 2009 - Medical - 493 pages Important strides have been made in understanding the pathophysiologic basis of many inflammatory conditions in recent years, but rheumatology remains a discipline in which diagnosis [books.google.com]

(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]

Standard Therapies Treatment The care of patients with EDS is generally focused on implementing preventative measures against serious or life-threatening complications. [rarediseases.org]

Mutations in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. [ghr.nlm.nih.gov]