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]

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]

It is recommended to avoid heavy exercise and contact sports due to skin fragility and easy bruising. [xpertdox.com]

bleeding time, Rickets, Severe short stature, Thin skin, Depressed nasal bridge, Epicanthus, Femoral hernia and Inguinal hernia. [xpertdox.com]

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]

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]

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]

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]

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]

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]

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]

Oral manifestations Fragile oral mucosae, with easy bruisability and hemorrhagic blisters as well as bleeding gums are typical oral aspects. The teeth are often crowded but otherwise normal. [p-eds.org]

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]

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]

Other signs and symptoms include Dysphasia, Echolalia, Esophagitis, Excessive wrinkled skin, Aphasia, Avascular necrosis of the capital femoral epiphysis, Coxa valga, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Stomach hernia, Dislocated hips, [xpertdox.com]

wrinkled skin 0007392 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn This gene encodes an enzyme that helps process several types of "procollagen molecules " (precursors of collagen ). [rarediseases.info.nih.gov]

Other signs and symptoms include Dysphasia, Echolalia, Esophagitis, Excessive wrinkled skin, Aphasia, Avascular necrosis of the capital femoral epiphysis, Coxa valga, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Stomach hernia, Dislocated hips, [xpertdox.com]

vara 0002812 Dysphasia 0002357 Echolalia Echoing another person's speech 0010529 Esophagitis Inflammation of the esophagus 0100633 Excessive wrinkled skin 0007392 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn This gene encodes an [rarediseases.info.nih.gov]

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

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]

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]

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]

Other signs and symptoms include Dysphasia, Echolalia, Esophagitis, Excessive wrinkled skin, Aphasia, Avascular necrosis of the capital femoral epiphysis, Coxa valga, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Stomach hernia, Dislocated hips, [xpertdox.com]

[…] include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias ; and mild to severe joint hypermobility. 0002381 Avascular necrosis of the capital femoral epiphysis 0005743 Coxa valga 0002673 Coxa vara 0002812 Dysphasia [rarediseases.info.nih.gov]

Other signs and symptoms include Dysphasia, Echolalia, Esophagitis, Excessive wrinkled skin, Aphasia, Avascular necrosis of the capital femoral epiphysis, Coxa valga, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Stomach hernia, Dislocated hips, [xpertdox.com]

[…] skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias ; and mild to severe joint hypermobility. 0002381 Avascular necrosis of the capital femoral epiphysis 0005743 Coxa valga 0002673 Coxa vara 0002812 Dysphasia 0002357 Echolalia [rarediseases.info.nih.gov]