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Brittle Cornea Syndrome

Ehlers Danlos Syndrome Type VIb


Presentation

  • To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia.[ncbi.nlm.nih.gov]
  • This phenotypical expression presents an interesting challenge to anesthetic care. We briefly present the perioperative management of a patient with BCS who underwent three cesarean sections.[ncbi.nlm.nih.gov]
  • A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive.[ncbi.nlm.nih.gov]
  • We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia.[ncbi.nlm.nih.gov]
  • In the present study, we have performed molecular analysis of a cohort of 23 BCS affected patients on both ZNF469 and PRDM5, including those who were clinically reported previously [1]; the clinical description of three additional patients is reported[ncbi.nlm.nih.gov]
Inguinal Hernia
  • hernia, umbilical hernia , hip dysplasia , megalocornea (enlargement of the cornea), mitral valve prolapse , pes planus (flat feet), increased susceptibility to fractures, mitral valve prolapse, neonatal hypotonia , narrowing of pulmonary valve, retinal[xpertdox.com]
Easy Bruising
  • bruising, abnormality of hair pigmentation, osteoporosis, sensorineural hearing impairment, visual loss, thinning of cornea and corneal degeneration.[xpertdox.com]
  • bruising muscle pain muscle fatigue chronic degenerative joint disease premature osteoarthritis chronic pain heart valve problems Symptoms of vascular EDS fragile blood vessels thin skin transparent skin thin nose protruding eyes thin lips sunken cheeks[healthline.com]
  • The affected sisters had high myopia, blue sclerae, keratoconus, keratoglobus, soft skin with easy bruising, hypermobility of the small joints, femoral epiphyseal changes, abnormal gait, hypercompliance of tympanic membranes, and mixed conductive and[omim.org]
  • Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and 3. Joint hypermobility (generalized or restricted to small joints). There are four minor criteria.[raredr.com]
  • Cardiac-valvular EDS Major criteria are: Severe progressive cardiac-valvular problems (aortic valve, mitral valve); Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and Joint hypermobility (generalized or restricted[raredr.com]
Hip Dislocation
  • FORMERLY; EDS6B, FORMERLY , FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY Classification developmental, eye, genetic, skin, systemic and rheumatological Phenotypes Atypical scarring of skin ; Autosomal recessive inheritance ; Blue sclerae ; Congenital hip[mousephenotype.org]
  • Systemic Features: Skin laxity with easy bruisability, pectus excavatum, scoliosis, congenital hip dislocation, a high arched palate, mitral valve prolapse and recurrent shoulder dislocations are often present.[disorders.eyes.arizona.edu]
  • Congenital bilateral hip dislocation; 2. Severe GJH, with multiple dislocations/subluxations; and 3. Skin hyperextensibility. There are five minor criteria.[raredr.com]
  • Arthrochalasia EDS Major criteria are: Congenital bilateral hip dislocation; Severe GJH, with multiple dislocations/subluxations; and Skin hyperextensibility. There are five minor criteria.[raredr.com]
  • Systemic abnormalities included increased skin laxity, pectus excavatum, scoliosis, congenital hip dislocation, recurrent shoulder dislocation, high-frequency hearing loss, high-arched palate, and mitral valve prolapse.[omim.org]
Hyperlaxity
  • Additional systemic symptoms such as joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis place BCS among the connective-tissue disorders. Previously, we assigned the disease gene to a 4.7 Mb interval on chromosome 16q24.[ncbi.nlm.nih.gov]
  • There was significant joint hyperlaxity (Beighton score 9/9). Oral inspection revealed poor dental hygiene and an arched palate. The sternum protruded outward slightly (pectus carinatum).[jamanetwork.com]
Hearing Impairment
  • ; Mitral valve prolapse ; Myalgia ; Neonatal hypotonia ; Osteoporosis ; Pes planus ; Pulmonic stenosis ; Retinal detachment ; Scoliosis ; Sensorineural hearing impairment ; Soft skin ; Visual loss Associated Genes PRDM5 (Withdrawn symbols: PFM2 ) , ZNF469[mousephenotype.org]
  • […] systemic and rheumatological Phenotypes Atypical scarring of skin ; Autosomal recessive inheritance ; Blue sclerae ; Congenital hip dislocation ; Decreased corneal thickness ; Dentinogenesis imperfecta ; Disproportionate tall stature ; Epicanthus ; Hearing[mousephenotype.org]
  • Hearing impairment with mixed sensorineural/conductive defects is common. Genetics This autosomal recessive disorder results from homozygous mutations in PRDM5 (4q27).[disorders.eyes.arizona.edu]
  • impairment, visual loss, thinning of cornea and corneal degeneration.[xpertdox.com]
  • Zeeshan Mahmood , who's had impaired sight and hearing since he was a teen, is using accessible technology to learn and to work Visually and hearing-impaired student Zeeshan Mahmood had electronic devices that enable him to hear surgically inserted when[theglobeandmail.com]
Blue Sclera
  • A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive.[ncbi.nlm.nih.gov]
  • Both eyes had keratoglobus and blue sclera and had grossly normal intraocular pressure by digital palpation.[jamanetwork.com]
  • We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair.[ncbi.nlm.nih.gov]
  • Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease characterized by variable combinations of corneal thinning and fragility, corneal ruptures either spontaneously or after minor trauma, blue sclerae, keratoconus, keratoglobus[ncbi.nlm.nih.gov]
  • Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the small joints are additional features of BCS.[ncbi.nlm.nih.gov]
Blue Sclera
  • A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive.[ncbi.nlm.nih.gov]
  • Both eyes had keratoglobus and blue sclera and had grossly normal intraocular pressure by digital palpation.[jamanetwork.com]
  • We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair.[ncbi.nlm.nih.gov]
  • Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease characterized by variable combinations of corneal thinning and fragility, corneal ruptures either spontaneously or after minor trauma, blue sclerae, keratoconus, keratoglobus[ncbi.nlm.nih.gov]
  • Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the small joints are additional features of BCS.[ncbi.nlm.nih.gov]
Erythema
  • 玫瑰疹 B0820 Exanthema subitum [sixth disease], unspecified 猝發疹[第六疾病],未特定 B0821 Exanthema subitum [sixth disease] due to human herpesvirus 6 人類第六型疱疹病毒所致猝發疹[第六疾病] B0822 Exanthema subitum [sixth disease] due to human herpesvirus 7 人類第七型疱疹病毒所致猝發疹[第六疾病] B083 Erythema[icd-10th.blogspot.com]
Excessive Wrinkled Skin
Excessive Wrinkled Skin
Withdrawn
  • […] symbols: PFM2 ) , ZNF469 (Withdrawn symbols: KIAA1858 ) Mouse Orthologs Prdm5 (Withdrawn symbols: 4432417F03Rik, 6530401I24Rik, AI197291, E130112L17Rik ) , Zfp469 (Withdrawn symbols: Gm22 ) Source ORPHA:90354 (names, synonyms, disease associated genes[mousephenotype.org]
  • […] symbols: KIAA1858 ) Mouse Orthologs Zfp469 (Withdrawn symbols: Gm22 ) Source OMIM:229200 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models phenotype-based[mousephenotype.org]

Workup

  • Biochemical workup for MEN2 includes basal serum calcitonin and carcinoembryonic antigen (CEA) levels, both of which would be elevated in MTC.[dermatologyadvisor.com]

Treatment

  • We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS.[ncbi.nlm.nih.gov]
  • To describe corneal cross-linking (CXL) as a treatment option for brittle cornea syndrome (BCS). Case report. Ethical decision making enabled bilateral sequential transepithelial CXL in an 11-year-old girl with BCS.[ncbi.nlm.nih.gov]
  • Treatment Treatment Options: Treatment beyond corneal repair is limited. References References Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN.[disorders.eyes.arizona.edu]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Treatment Treatment Options: Treatment for specific defects such as joint dislocations and mitral valve malfunction may be helpful.[disorders.eyes.arizona.edu]

Prognosis

  • The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis. Copyright 2003 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis.[zora.uzh.ch]
  • Diagnosis and Prognosis: Diagnosis generally requires a multidisciplinary team of specialists.[disorders.eyes.arizona.edu]
  • Prognosis for patients with Alagille syndrome The outlook or prognosis for people with Alagille syndrome depends on the severity of liver damage and associated problems.[news-medical.net]
  • Prognosis The earlier a patient is diagnosed, the better his/her chances of alleviating symptoms and avoiding complications. The symptoms may remain mild, worsen and plateau, or become debilitating.[encyclopedia.com]

Etiology

  • The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with disease.[ncbi.nlm.nih.gov]
  • Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management[books.google.com]
  • Etiology Pathophysiology MEN1 and MEN2 are hereditary cancer syndromes. Germline mutations in the MEN1 tumor suppressor gene located on chromosome 11q13 cause the MEN1 syndrome. MEN1 encodes for the protein menin.[dermatologyadvisor.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • Epidemiology Alagile syndrome occurs in about one in every 70,000 births and is seen at equal rates in both males and females. The symptoms appear before the baby completes two years.[news-medical.net]
  • Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ] . It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia.[patient.info]
  • [Epidemiology of keratoconus in the Urals]. Vestn Oftalmol 1998; 114 (4): 38–40. 44. Georgiou T, Funnell CL, Cassels-Brown A, O’Conor R.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Furthermore we plan (1) to identify additional BCS causing genes in those families negative for ZNF469 and PRDM5 mutations, (2) to characterize its mutation(s), and (3) to gain insight into physiology and pathophysiology of this syndrome.[research-projects.uzh.ch]
  • However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ] .[patient.info]
  • Etiology Pathophysiology MEN1 and MEN2 are hereditary cancer syndromes. Germline mutations in the MEN1 tumor suppressor gene located on chromosome 11q13 cause the MEN1 syndrome. MEN1 encodes for the protein menin.[dermatologyadvisor.com]

Prevention

  • Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the[ncbi.nlm.nih.gov]
  • Measures to prevent corneal rupture, such as wearing special protective glasses, may help delay vision loss.[rarediseases.info.nih.gov]
  • Lifestyle advice must be given to the patient and family members to prevent eye trauma. Protective polycarbonate spectacles have a proven role in minimizing the chances of significant eye damage in trivial injuries.[xpertdox.com]
  • CONCLUSION • PREVENTION IS ALWAYS BETTER THAN CURE !![de.slideshare.net]
  • In additional, there are several steps you can take to prevent injury.[healthline.com]

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