A 13-year-old patient with dermatosparaxis (Ehlers-Danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented. [ncbi.nlm.nih.gov]

Joint hypermobility may be present but is typically limited to small joints, such as joints in the fingers and toes. Clubfoot may present at birth. [painscale.com]

The disease is now called Ehlers-Danlos syndrome (EDS) after Ehlers2 and Danlos,3 who, in 1901 and 1908, respectively, described two patients who presented with abnormal rheological properties of skin and joints. [jamanetwork.com]

The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre. [orpha.net]

CLINICAL RELEVANCE: These findings strongly suggest that the mutation responsible for dermatosparaxis in White Dorper sheep is present in New Zealand. [tandfonline.com]

• Short Stature

  Signs and symptoms: Characteristic signs and symptoms of dermatosparaxis vary but may include soft, saggy, redundant, fragile and doughy skin, hernias, short stature, severe bruising and scarring, delayed closure of the fontanelles, short fingers, mild [xpertdox.com]

  Other symptoms include easy bruising, premature rupture of fetal membranes, fragile internal organs, large umbilical and inguinal hernias, as well as short stature and short fingers. [medicover-genetics.com]

  Other symptoms include a small chin, a blue tinge in the white part of the eyeball (sclera), and short stature. There is no cure for dermatosparaxis type EDS; it is a life-long condition that requires close monitoring. [globalgenes.org]

  0009803 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Soft, doughy skin 0001027 Spontaneous neonatal pneumothorax 0004876 Thick vermilion border Full lips Increased volume of lip [rarediseases.info.nih.gov]

• Short Finger

  The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. [ncbi.nlm.nih.gov]

  Additionally, people with EDS, dermatosparaxis type have problems with bones, such as short fingers and improperly closing fontanels. Other symptoms include swelling around the eyes and hernia. [sharecare.com]

  EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. [uniprot.org]

  Other symptoms include easy bruising, premature rupture of fetal membranes, fragile internal organs, large umbilical and inguinal hernias, as well as short stature and short fingers. [medicover-genetics.com]

  […] stature Short fingers Mild to severe hypermobility in the joints To avoid any health complications, people with EDS may do physical therapy, especially if they have hypermobile joints. [theheartysoul.com]

• Developmental Delay

  Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays. Multiple testing options providing information on the genetic health of your baby during the first and second trimesters. [integratedgenetics.com]

  It presents with congenital hip dislocations, fragile skin, scoliosis, and other developmental delays. Dermatosparaxis EDS (dEDS) This condition is very rare and is caused by changes in the ADAMTS2 gene. [clovergenetics.com]

  Motor developmental delay 4. [wikimsk.org]

  delay, myopathy on muscle biopsy BCS (ZNF469; PRDM5) soft, velvety and/or translucent skin, mild skin hyperextensibility, easy bruising, hernia developmental dysplasia of hip, scoliosis, arachnodactyly, hypermobility of distal joints, pes planus, hallux [mdpi.com]

• Easy Bruising

  The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. [ncbi.nlm.nih.gov]

  […] pain, easy bruising, easy bleeding, normal scars Dominant TNXB ( (Not available through CDL) Vascular Type (EDS type IV) Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine [uwcpdx.org]

  EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. [uniprot.org]

  What Is The Dermatosparaxis Type- EDS Inheritance Autosomal recessive Major Diagnostic criteria Severe skin fragility Sagging, redundant skin Minor Diagnostic criteria Soft doughy skin texture Easy bruising Premature rupture of fetal membranes Large hernias [chronic-illnesses-awareness.weebly.com]

  The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. [orpha.net]

• Tooth Discoloration

  The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility. [ncbi.nlm.nih.gov]

  None showed crown malformations, tooth discoloration or hypodontia, the latter was validated by inspection of the published orthopantomographs. Histological analysis. [medicaljournals.se]

  Tooth abnormalities 10. Refractive errors (myopia, astigmatism) 11. [wikimsk.org]

  discoloration, dysplastic teeth SLC39A13: protuberant eyes with bluish sclerae, hypodontia of one or few teeth B4GALT7: clouded cornea, refractive errors B3GALT6: hypermetropia, rarely corneal clouding SLC39A13: refractive errors Rarely aortic aneurysm [mdpi.com]

• Bleeding Gums

  gums, Gingival hyperkeratosis, Gum enlargement, Hirsutism, Premature rupture of membranes, Recurrent mandibular subluxations, Short phalanx of finger, Decreased body height, Short toes, Spontaneous neonatal pneumothorax, Full lips, Umbilical hernia and [xpertdox.com]

  Bleeding of the gums after tooth brushing and not ending bleeding after tooth extraction are frequent. Molluscoid pseudotumors and spheroids. [p-eds.org]

  Bleeding gums 0000225 Gingival hyperkeratosis 0000222 Gingival overgrowth Gum enlargement 0000212 Hirsutism Excessive hairiness 0001007 Hypodontia Failure of development of between one and six teeth 0000668 Joint laxity Joint instability Lax joints Loose-jointedness [rarediseases.info.nih.gov]

• Osteopenia

  […] fragility Minor criteria Soft and doughy skin texture Skin hyperextensibility Atrophic scars Generalized joint hypermobility (GJH) Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia [edstoday.org]

  […] epiphysis, Coxa valga, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Stomach hernia, Dislocated hips, Hip dysplasia, Hyperextensible skin, Joint stiffness, Muscular hypotonia, Mutism (Inability to speak), Osteomalacia (Softening of the bones), Osteopenia [xpertdox.com]

  […] fragility Minor Criteria Soft and doughy skin texture Skin hyperextensibility Atrophic scars Generalized joint hypermobility Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia [ehlers-danlos.com]

  The features of spEDS are short stature, hypotonia, limb-bowing, osteopenia, and hyperextensible, thin, doughy skin. Musculocontractural Ehlers–Danlos syndrome (mcEDS) The inheritance pattern of mcEDS is autosomal recessive. [dermnetnz.org]

• Cutis Laxa

  Cutis laxa Other names Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis Cutis laxa in a neonate Specialty Medical genetics Cutis laxa [1] or pachydermatocele[2] is a group of rare connective [en.wikipedia.org]

  Redundancy of the facial skin results in an appearance resembling cutis laxa; however, bruising and skin fragility are not manifestations of cutis laxa. [chronic-illnesses-awareness.weebly.com]

  The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small. [ehlers-danlos.com]

  The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen. [edstoday.org]

  Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. [orpha.net]

• Skin Tear

  In the older patients, however, more typical atrophic scarring with hyperpigmentation is seen, probably due to repeated skin tearing, bruising and secondary infections. [geneskin.org]

  Dermatosparaxis EDS (dEDS) Inheritance Autosomal recessive Major criteria: Extreme skin fragility with congenital or postnatal skin tears Characteristic craniofacial features, which are evident at birth or early infancy, or evolve later in childhood Redundant [edstoday.org]

  PATHOLOGICAL FINDINGS: Large skin tears with associated haemorrhage, periarticular S/C oedema and generalised skin fragility were observed in both lambs at post-mortem examination. [tandfonline.com]

  […] with congenital or postnatal skin tears Characteristic craniofacial features, which are evident at birth or early infancy, or evolve later in childhood Redundant, almost lax skin, with excessive skin folds at the wrists and ankles Increased palmar wrinkling [ehlers-danlos.com]

• Hirsutism

  […] criteria Soft and doughy skin texture Skin hyperextensibility Atrophic scars Generalized joint hypermobility (GJH) Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism [edstoday.org]

  Limb undergrowth, Micromelia, Motor delay, Myopia, Premature birth, Downslanted palpebral fissures (Downward slanting of the opening between the eyelids), Drooping lower lip, Frontal open bite, Bleeding gums, Gingival hyperkeratosis, Gum enlargement, Hirsutism [xpertdox.com]

  Minor Criteria Soft and doughy skin texture Skin hyperextensibility Atrophic scars Generalized joint hypermobility Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism [ehlers-danlos.com]

  […] connective tissue fragility Minor criteria Soft and doughy skin texture Skin hyperextensibility Atrophic scars GJH Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism [rareguru.com]

• Hypertrichosis

  […] and scleral fragility and rupture of the globe Recessive PLOD1 Ocular-scoliotic, type VI Arthrochalasia Type (EDS type VIIA and VIIB) Congenital hip dislocation; very soft, fragile, bruisable skin, marked joint hypermobility, blue sclerae, small jaw, hypertrichosis [uwcpdx.org]

• Blue Sclera

  He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation. [ncbi.nlm.nih.gov]

  EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. [uniprot.org]

• Strabismus

  […] scars Generalized joint hypermobility (GJH) Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism Tooth abnormalities Refractive errors (myopia, astigmatism) Strabismus [edstoday.org]

  Atrophic scars Generalized joint hypermobility Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism Tooth abnormalities Refractive errors (myopia, astigmatism) Strabismus [ehlers-danlos.com]

  Minor criteria: Doughy and soft skin texture Hyperextensibility of skin Presence of Atrophic scars GJH Delayed motor development Complications of fragility of viscera (e.g., diaphragmatic rupture, bladder rupture, rectal prolapse) Hirsutism Osteopenia Strabismus [xpertdox.com]

  Skin hyperextensibility Atrophic scars GJH Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism Tooth abnormalities Refractive errors (myopia, astigmatism) Strabismus [rareguru.com]

• Fear

  For years she struggled with low self-esteem and would often go out of her way to hide her body because she feared being bullied for her condition. She said: "In high school, I just tried to cover it up. [dailystar.co.uk]

  “Spoonies feel they have to hide for fear of judgment from the able-bodied community. [themighty.com]

• Large Fontanel

  We describe the clinical and electronmicroscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts. [ncbi.nlm.nih.gov]

  EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. [uniprot.org]

  Observations: We describe the clinical and electron-microscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts. [jamanetwork.com]

• Thick Lips

  […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Umbilical hernia 0001537 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 Showing of 65 | Last updated: 2/1/2021 Cause Cause [rarediseases.info.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre. [orpha.net]

Full text links Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter [read.qxmd.com]

The treatment for Ehlers-Danlos Syndrome, Dermatosparaxis Type is geared towards addressing the symptoms and reducing complications, since the disorder does not have a cure. [dovemed.com]

The Ehlers-Danlos Syndrome Clinic aims to offer a holistic approach to treatment of EDS patients in one convenient location for parents and families. Treatment regimens are based on EDS subtype, child’s health history, current symptoms and more. [nortonhealthcareprovider.com]

Management no curative treatment is available treatment is supportive - includes monitoring and additional interventions tailored to the particular manifestations or complications that may occur with each form of EDS Prognosis: varies by subtype vascular [gpnotebook.com]

Prognosis in the Ehlers Danlos syndromes[8] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type. [patient.info]

(Ehlers-Danlos Syndrome) Etiology Genetic mutations (either inherited or spontaneous) are the underlying reason for this syndrome. The defective genes are usually passed on from one or both parents to the child. [news-medical.net]

(Etiology) Ehlers-Danlos Syndrome, Dermatosparaxis Type is caused by mutation(s) in the ADAMTS2 gene: The ADAMTS2 gene codes for the enzyme called “disintegrin and metalloproteinase with thrombospondin motifs-2” or ADAMTS2 enzyme This enzyme catalyzes [dovemed.com]

Etiology and epidemiology of preterm premature rupture of the membranes. Clin Perinatol 2001; 28: 721-734. 41Horgan CE, Roumimper H, Tucker R, Lechner BE. Altered decorin and Smad expression in human fetal membranes in PPROM. [ghrnet.org]

Finding an answer to this has been a roadblock between understanding the genetic disorder and correcting the genetic disorder.[34] Epidemiology[edit] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected [en.wikipedia.org]

Epidemiology Frequency International Worldwide, more than 1.5 million people are diagnosed with Ehlers-Danlos syndrome (EDS). EDS (all types combined) is reported to have a 1 in 5,000-10,000 population frequency. [emedicine.medscape.com]

Epidemiology of Ehlers-Danlos syndromes Overall, EDS has an estimated prevalence of 1:5,000 to 1:250,000 births[4]. The ratio of affected women to men is about 8:1. The classical type occurs in 1 in 20,000 to 1 in 40,000 people. [patient.info]

Etiology and epidemiology of preterm premature rupture of the membranes. Clin Perinatol 2001; 28: 721-734. 41Horgan CE, Roumimper H, Tucker R, Lechner BE. Altered decorin and Smad expression in human fetal membranes in PPROM. [ghrnet.org]

The assessment of the joints is done using the Beighton hypermobility scale, which is widely used in assessing hypermobility of peripheral joints and the spine, and is the scoring system most often used in epidemiologic research [32,33]. [medilib.ir]

This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.de]

The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology. Matrix Biol. 2015, 44–46, 46–53. [mdpi.com]

Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. [emedicine.medscape.com]

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. Genes, 11(1), 43. Kuivaniemi H., Tromp, G. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. [clovergenetics.com]

GENETICS AND PATHOGENESIS — In most types of Ehlers-Danlos syndrome (EDS), the underlying pathophysiology involves inherited alterations in genes affecting the synthesis and processing of different forms of collagen, which are important in the structure [medilib.ir]

Ehlers-Danlos Syndrome, Dermatosparaxis Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules. [ncbi.nlm.nih.gov]

Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. read more [oneedsvoice.com]

[…] face; hernias ; and mild to severe joint hypermobility .[8950][9011][9012] EDS, dermatosparaxis type is caused by changes ( mutations ) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.[8949] Treatment and management is focused on preventing [rarediseases.org]