Create issue ticket

115 Possible Causes for Heterozygotes Exhibit Blue Sclerae and Soft, Velvety Skin

Did you mean: Heterozygotes Exhibit, Blue Sclerae, and Soft, Velvety Skin

  • Brittle Cornea Syndrome

    A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family.[ncbi.nlm.nih.gov] They had extremely thin and bulging corneas, velvety skin, chestnut colored hair, scoliosis, reduced BMD, dental anomalies, hearing loss, and minor cardiac defects.[ncbi.nlm.nih.gov] Both eyes were phthisical, had blue sclera, and were soft to palpation.[jamanetwork.com]

  • Ehlers-Danlos Syndrome due to Tenascin-X Deficiency

    sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile[uwcpdx.org] Other symptoms may include velvety skin, joint pain, and muscle weakness.[diseaseinfosearch.org] People with this condition may have skin that is soft, velvety, or stretchy; however, skin symptoms vary among people.[learnaboutyourpain.com]

  • Osteogenesis Imperfecta

    Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them.[ncbi.nlm.nih.gov] The mother had velvety skin and small-joint hypermobility.[emedicine.com] The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years.[ncbi.nlm.nih.gov]

  • Blue Sclera

    Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.[ncbi.nlm.nih.gov] Skin was thin, velvety, and without abnormal elasticity. Subcutaneous veins were easily appreciated.[jamanetwork.com] The CCT was compared between two different patient subgroups (type-I OI with blue sclera, n 12; type-IV OI without blue sclera, n 11).[ncbi.nlm.nih.gov]

  • Brittle Cornea Syndrome 2

    sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.[zora.uzh.ch] Symptoms of classic EDS loose joints highly elastic, velvety skin fragile skin skin that bruises easily redundant skin folds on the eyes muscle pain muscle fatigue benign[healthline.com] Part A is a series of 12 symptoms, of which five must be met in order to quality: Unusually velvety skin Mild skin hyperextensibility Unexplained striae on back, groins, thighs[normanmarcuspaininstitute.com]

  • Ehlers-Danlos Syndrome, Type 3

    sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile[uwcpdx.org] The smooth, velvety skin is fragile and tears or bruises easily with minor trauma. Joint dislocations and scoliosis are common.[medicinenet.com] […] that appears normal after being released Smooth, velvety skin Fragile skin that may scar abnormally and/or easy bruising Fragile blood vessels (especially capillaries) that[forgottendiseases.org]

  • Ehlers Danlos Syndrome

    sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile[uwcpdx.org] Signs and symptoms include: Loose joints Highly elastic, velvety skin Fragile skin that bruises or tears easily Redundant skin folds, such as on the eyelids Slow and poor[web.archive.org] The most common symptoms of EDS are an unusually large range of joint movement (hypermobility), soft velvety skin, skin that is abnormally stretchy (hyperextensible) and chronic[diseaseinfosearch.org]

  • Ehlers-Danlos Syndrome Type 2

    In classic EDS, they include the following: Facial features that may occur in classic EDS Epicanthal folds on the eyes Blue sclerae Micrognathia (small jaw) Retrognathia ([forgottendiseases.org] Symptoms - Ehlers-Danlos syndrome type 2 * Narrow maxilla * Velvety skin * Hyperextensible skin * Fragile skin * Poor skin wound healing * Small moveable subcutaneous spherules[checkorphan.org] sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile[uwcpdx.org]

  • Osteogenesis Imperfecta Type 2

    The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal[medicinenet.com] The mother had velvety skin and small-joint hypermobility.[emedicine.medscape.com] Affected individuals exhibit short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclera, whites of the eyes, small nose, low nasal bridge[writerightmel.wordpress.com]

  • Ehlers-Danlos Syndrome Type 4

    These feature include large eyes, thin lips, a thin or pinched nose, blue sclera, and underdeveloped earlobes.[forgottendiseases.org] […] knees, shins and elbows smooth, velvety skin that bruises easily wounds that are slow to heal and leave wide scars hernias and organ prolapse Vascular EDS Vascular EDS (vEDS[nhs.uk] sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile[uwcpdx.org]

Further symptoms

Similar symptoms