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]

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 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. [diseaseinfosearch.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]

  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]

• 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]

  […] 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]

  […] phalanx of finger, Decreased body height, Short toes, Spontaneous neonatal pneumothorax, Full lips, Umbilical hernia and Wide anterior fontanel. [xpertdox.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]

  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]

  […] 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]

  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]

• 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]

• 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]

• Microdontia

  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]

• Gingival Overgrowth

  […] bleeding 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 [rarediseases.info.nih.gov]

• Excessive Wrinkled Skin

  […] infancy, or later in childhood Redundant skin with presence of excessive skin folds at the ankles and wrists Increase in palmar wrinkling Excessive bruisability with heightened risk of subcutaneous haemorrhage and hematomas Umbilical hernia Postnatal [xpertdox.com]

  […] later in childhood Redundant, almost lax skin, with excessive skin folds at the wrists and ankles Increased palmar wrinkling Severe bruisability with a risk of subcutaneous hematomas and haemorrhage Umbilical hernia Postnatal growth retardation Short [rarediseases.info.nih.gov]

• Decrease in Height

  […] body height, Short toes, Spontaneous neonatal pneumothorax, Full lips, Umbilical hernia and Wide anterior fontanel. [xpertdox.com]

  […] 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 Plump lips Prominent lips Thick [rarediseases.info.nih.gov]

• Joint Stiffness

  stiffness, Muscular hypotonia, Mutism (Inability to speak), Osteomalacia (Softening of the bones), Osteopenia, Osteoporosis, Prolonged bleeding time, Rickets, Severe short stature, Thin skin, Depressed nasal bridge, Epicanthus, Femoral hernia and Inguinal [xpertdox.com]

  […] hyperflexibility Joints move beyond expected range of motion 0005692 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Muscular hypotonia Low or weak muscle tone 0001252 Mutism Inability to speak Muteness [ more ] 0002300 Osteomalacia Softening [rarediseases.info.nih.gov]

• Brachydactyly

  Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly. [patient.info]

• 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]

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

Treatment Treatment The treatment of dermatosparaxis EDS (dEDS) is focused on preventing serious complications and relieving associated signs and symptoms. [rarediseases.info.nih.gov]

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]

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

Prognosis in the Ehlers Danlos syndromes [ 7 ] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type. [patient.info]

(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]

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 [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency [patient.info]

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]

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

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

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]