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Osteoporosis
To further characterize the significance of the mutation we studied his mother who is 30 year old with blue sclera and history of backache but no fractures.[ncbi.nlm.nih.gov]
These include a short fifth digit, dentinogenesis imperfecta, hyperlaxity, hearing loss, pes planus, bunions, and blue sclerae.[emedicine.medscape.com]
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Osteogenesis Imperfecta Type 15
sclerae, death for respiratory insufficiency and pneumonias.[iofbonehealth.org]
None of the type V patients presented blue sclerae or dentinogenesis imperfecta, but ligamentous laxity was similar to that in patients with OI type IV.[ncbi.nlm.nih.gov]
[…] in the perinatal period Numerous fractures and severe bone deformity Length and weight SGA Head large for body size Usually blue-gray sclera Markedly reduced ossification[en.wikibooks.org]
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Marshall-Smith Syndrome
sclerae, depressed nasal bridge, and micrognathia.[ncbi.nlm.nih.gov]
Abnormal phenotype included dolichocephaly, prominent occiput, frontal bossing and triangular facies, arched eyebrows, proptosis, with blue sclera, depressed nasal bridge,[nature.com]
[…] accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue[ncbi.nlm.nih.gov]
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Brittle Cornea Syndrome 2
sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.[zora.uzh.ch]
A familial trait associated with blue sclera. Am J Ophthalmol. 1968, 66: 67-9. PubMed CrossRef 8.[springermedizin.de]
Name Brittle Cornea Syndrome 2 Synonyms - Classification developmental, eye, genetic, skin, systemic and rheumatological Phenotypes Autosomal recessive inheritance ; Blue[mousephenotype.org]
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Marfan Syndrome
LDS patients may also have widely spaced eyes, cleft palate, blue sclerae, and type 1 Chiari malformations (in which a portion of the cerebellum descends out of the skull[forgottendiseases.org]
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Hallermann Syndrome
Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy.[aaopt.org]
Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients.[disorders.eyes.arizona.edu]
Ophthalmic features are microphthalmia, congenital cataracts, blue sclerae and nystagmus.[jpgmonline.com]
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Loeys Dietz Syndrome Type 1
sclerae Whites of eyes are a bluish-gray color 0000592 Camptodactyly of finger Permanent flexion of the finger 0100490 Craniosynostosis 0001363 Hypertelorism Wide-set eyes[rarediseases.info.nih.gov]
sclerae, a blue tinge to the whites of the eyes micrognathia , a small chin retrognathia, receding chin Skeletal system symptoms long fingers and toes contractures of the[healthline.com]
On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia.[ajnr.org]
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Spondyloepimetaphyseal Dysplasia - Abnormal Dentition Syndrome
Diseases related with Short stature and Blue sclerae In the following list you will find some of the most common rare diseases related to Short stature and Blue sclerae that[mendelian.co]
sclera throughout life Presenile hearing loss in 40% Fractures at birth in 10% Kypho-scoliosis in 20% II (1/62,000) Congenita Autosomal recessive Blue sclera Extreme bone[flinders.edu.au]
It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.[orthopaedicweblinks.com]
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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]
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).[bjo.bmj.com]
Both eyes were phthisical, had blue sclera, and were soft to palpation.[jamanetwork.com]
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Dermatosparaxis
He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation.[ncbi.nlm.nih.gov]
Conclusions: The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae[jamanetwork.com]
sclera.[uniprot.org]