Variable Absent Bone marrow cystine crystals Present Present Present Ocular Retinopathy Present Variable Absent Crystalline deposits in cornea and conjunctiva Present Present Present Photophobia Usually present Variable Absent Renal Tubular dysfunction [entokey.com]

Our patient only presented with bilateral pigmentary retinopathy. Small angioid streaks were present around the optic nerve, but we believe these were an incidental finding. [reviewofoptometry.com]

ORPHA:352740 Synonym(s): Waardenburg syndrome type 2 with ocular albinism Prevalence: Inheritance: - Age of onset: Infancy, Neonatal ICD-10: E70.3 OMIM: 103470 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for [orpha.net]

In Caucasian individuals the amount of pigment present at birth varies from minimal to moderate. [patient.info]

• Anemia

  A CELLULE FALCIFORMI (RDG010) ANEMIE EREDITARIE (RDG010) ANEMIE SIDEROBLASTICHE (RDG010) BLACKFAN-DIAMOND, ANEMIA DI (RDG010) FANCONI, ANEMIA DI (RDG010) FAVISMO (RDG010) METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINAREDUTTASI (RDG010) SFEROCITOSI EREDITARIA [malattierare.toscana.it]

  A CELLULE FALCIFORMI BLACKFAN-DIAMOND, ANEMIA DI ANEMIA CONGENITA IPOPLASTICA FANCONI, ANEMIA DI PANCITOPENIA DI FANCONI ANEMIE SIDEROBLASTICHE METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINAREDUTTASI RD0010 RD0020 RDG020 SINDROME EMOLITICO UREMICA EMOGLOBINURIA [dochero.tips]

  […] syndrome AD 21 56 SEMA3E CHARGE syndrome AD 1 4 SERPINB6 Deafness AR 2 3 SIX1 Deafness, Branchiootic syndrome, Branchiootorenal syndrome AD 11 19 SIX5 Branchiootorenal syndrome AD 3 10 SLC17A8 Deafness AD 1 8 SLC19A2 Thiamine-responsive megaloblastic anemia [blueprintgenetics.com]

  Features include hepatosplenomegaly, thrombocytopenia, jaundice, hemolytic anemia ... Microcephaly, intrauterine growth retardation, cerebral calcifications ... Hearing loss is sensorineural and may be progressive ... 4) Usher Syndrome ... [ibis-birthdefects.org]

• Fatigue

  Patients typically report that nystagmus becomes more noticeable with fatigue and illness. Some patients develop an anomalous head posture to dampen the nystagmus, referred to as the null point, where visual acuity is usually improved. [patient.info]

• Nausea

  She reported no history of nausea, vomiting, visual aura or migraines. Her medical history was significant for asthma for which she takes albuterol. She was born with a heart murmur and underwent heart valve surgery at age 4. [reviewofoptometry.com]

• Vomiting

  She reported no history of nausea, vomiting, visual aura or migraines. Her medical history was significant for asthma for which she takes albuterol. She was born with a heart murmur and underwent heart valve surgery at age 4. [reviewofoptometry.com]

• Hearing Impairment

  Present in only 50% of all children among whom substantial hearing impairment is eventually diagnosed ... [ibis-birthdefects.org]

  […] through HPO Adult onset sensorineural hearing impairment 0008615 Albinism 0001022 Depigmented fundus 0007680 Giant melanosomes in melanocytes 0005592 Nystagmus-induced head nodding 0001361 X-linked inheritance 0001417 Showing of 12 | Last updated: 5/ [rarediseases.info.nih.gov]

  However, symptomatic management should include supportive management of the hearing impairment and surgical treatment for associated Hirschsprung disease. [centogene.com]

• Ulcer

  The affected patient has bilateral subepithelial central corneal ulcers with herpetiform dendritic branching, which may develop with time into round whitish opacities with superficial new vessel formation. 60 The corneal ulceration probably results from [entokey.com]

  […] presents with variable but often intermediate form of hypopigmentation recurrent severe pyogenic infections that is ultimately lethal accompanied by progressive neurologic abnormalities, coagulation defects, and mucosal defects such as gingivitis, oral ulcerations [eyewiki.aao.org]

• Osteoporosis

  The most consistent skeletal abnormality is osteoporosis, which may lead to vertebral collapse. 5 Developmental delay occurs in approximately 65% to 80% of cases and may be progressive. Seizures and psychiatric disturbances can also occur. [entokey.com]

• Amenorrhea

  […] attention and memory deficit behavorial abnormality short stature (premature fusing of the epiphyseal plate) ovarian dysgenesis (streak ovary) shield chest bicuspid aortic valve webbing neck, cystic hygroma preductal coarctation most common cause of amenorrhea [quizlet.com]

• Seizure

  2 4 DCAF17 Woodhouse-Sakati syndrome AR 14 14 DCDC2 Deafness, Nephronophthisis, Sclerosing cholangitis, neonatal AR 13 9 DFNA5 Deafness AD 7 13 DFNB31 Deafness, Usher syndrome AR 12 31 DFNB59 Deafness AR 12 20 DIABLO Deafness AD 1 2 DIAPH1 Deafness, Seizures [blueprintgenetics.com]

  Lactic acidosis, encephalopathy, myopathy, seizure disorder, ophthalmoplegia, diabetes mellitus, cardiomyopathy/cardiac conduction defects, stroke like episodes, ataxia, and optic atrophy ... [ibis-birthdefects.org]

  Seizures and psychiatric disturbances can also occur. Thrombotic vascular occlusions constitute the main threat to survival in patients with homocystinuria. Large and small arteries and veins may be affected. [entokey.com]

  The phenotype of ES includes silvery hair, tendency for easy tanning due to a defect in melanin processing, profound CNS dysfunction including hypotonia, hemi or quadriplegia, seizure, and developmental delay, and lack of immunologic disturbance. [eyewiki.aao.org]

• Aura

  Learn more Other less relevant matches: Low match FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. [mendelian.co]

  She reported no history of nausea, vomiting, visual aura or migraines. Her medical history was significant for asthma for which she takes albuterol. She was born with a heart murmur and underwent heart valve surgery at age 4. [reviewofoptometry.com]

• Hyperactivity

  Dystonia Generalized hypopigmentation Congenital sensorineural hearing impairment Skeletal muscle atrophy Hypopigmentation of the fundus Red hair Abnormal anterior chamber morphology White eyelashes Scoliosis Gaze-evoked horizontal nystagmus Late onset Hyperactive [mendelian.co]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment of the irismelanoma by photocoagulation: a case report. OphthalmicSurg 1987;18:4244.3. de Corral LR, Conway M, Peyman GA, Constanteras A.Argon laser treatment of an abnormal angle vessel producingrecurrent hyphema. [dokumen.tips]

Prognosis - Albinism ocular late onset sensorineural deafness Not supplied. [checkorphan.org]

Associations cleft lip and palate Hirschsprung disease CT scan inner ear abnormalities, including aplasia of the posterior semicircular canal 6,7 Treatment and prognosis hearing loss: hearing augmentation cochlear implantation for severe hearing loss [radiopaedia.org]

These patients have a poor visual prognosis. Less common ocular complications of CRS include iris atrophy, uveal coloboma, nystagmus, strabismus, corneal haze, optic atrophy and high refractive error. [reviewofoptometry.com]

[…] both normal and mutated mtDNA in one person, result in variable expression in mitochondrial inherited disease kjer optic nerve neuropathy ADOA AD, OPA1,3,4 gene mutate mitochondrial dysfunction mediating the death of optic nerve fibers better visual prognosis [quizlet.com]

Prognosis Lifespan, development, intelligence, and fertility in patients with OCA are not different from unaffected patients. [eyewiki.aao.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Systematic review of the etiology of bilateral sensorineural hearing loss in children. Int J Pediatr Otorhinolaryngol. 2004 Sep. 68(9):1193-8. [Medline]. Mehta D, Noon SE, Schwartz E, et al. [emedicine.medscape.com]

What is the likely etiology? a. Autoimmune. b. Virus. c. Trauma. d. Bacterial. 4. What additional testing would be most beneficial? a. Ocular coherence tomography. b. Electroretinogram. c. B-scan ultrasonography. d. Pachymetry. 5. [reviewofoptometry.com]

Mastroiacovo et al. (1995) suggested autosomal dominant inheritance with variable expression and incomplete penetrance 'in a proportion of cases,' or multifactorial etiology ... [ibis-birthdefects.org]

[…] examples malformation deformation dysfunction dysplasia types of multiple congenital defects sequence complex (development field defects) association syndrome minor anomalies CNS defects, examples, and causes neural tube defect, types, epidemiology, etiology [quizlet.com]

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.com]

Epidemiology of Congenital Disorders of Pigmentation Waardenburg syndrome (WS) is probably less frequent than OCA. [accessmedicine.mhmedical.com]

The Epidemiology of Anotia and Microtia. Harris, J. [ibis-birthdefects.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

An epidemiological and clinical study of ocular manifestations of congenital rubella syndrome in Omani children. Arch Ophthalmol 2004 Apr;122(4):541-5. 2. Weisinger HS, Pesudovs K. Optical complications in congenital rubella syndrome. [reviewofoptometry.com]

The pathophysiologic mechanisms of hearing loss are unknown but Merchant et al identified separation of the basilar membrane and the basement membrane and cellular dysmorphology within the organ of corti. [17] Norrie Disease is a rare disorder caused [emedicine.medscape.com]

Prevention - Albinism ocular late onset sensorineural deafness Not supplied. Diagnosis - Albinism ocular late onset sensorineural deafness The diagnosis of ocular albinism is based on the characteristic eye findings. [checkorphan.org]

Ushers syndrome-deafness and progressive blind-ness: clinical cases, prevention, theory and literature survey.J Chron Dis 1969;22:133151.5. Souied E, Soubrane G, Benlian P, et al. [dokumen.tips]

American Tinnitus Association American Tinnitus Association, 2007 "Good source ... " Non-profit organization dedicated to promoting the relief, prevention ... [ibis-birthdefects.org]

This risk has been prevented in some children who have undergone neonatal liver transplantation. 53 Pharmacologic treatment with 2-(2-nitro-4-trifluoromethylbenzyl)-1,3-cyclohexanedione (NTBC) has changed the outcome of this disorder dramatically. 90% [entokey.com]

The World Health Organization encourages member countries to eradicate CRS by 2010. 1 New CRS cases have been rare since the introduction of the measles-mumps-rubella (MMR) vaccine in 1969. 2 The Centers for Disease Control and Prevention recommends vaccinations [reviewofoptometry.com]