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3,471 Possible Causes for Central Blindness, No Polydactyly, Onset of Renal Dysfunction in Early Childhood

  • Laurence Moon Syndrome

    Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Intellectual disability, hexadactyly, central diabetes insepidus, blindness (usually by 30 years due to central retinal degeneration).[en.wikipedia.org] Laurence-Moon syndrome comprises retinitis pigmentosa, initially, problem of night vision; then central vision and then peripheral vision loss progressing to blindness.[whonamedit.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Alstrom Syndrome

    […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[ncbi.nlm.nih.gov] Alström syndrome Alström-Hallgren syndrome, retino-otodiabetic syndrome Ophthalmology An AR condition characterized by progressive blindness, type 1 DM, obesity, deafness,[medical-dictionary.thefreedictionary.com] Sufferers often develop early-onset type 2 diabetes, renal and hepatic dysfunction affecting the liver and kidneys, bladder and bowel problems, and cardiomyopathy, where the[dailymail.co.uk]

  • Cortical Blindness

    Homepage Rare diseases Search Search for a rare disease Cortical blindness-intellectual disability-polydactyly syndrome Disease definition A rare, genetic, multiple congenital[orpha.net] Called also cortical blindness. cortical blindness see central blindness (above). day blindness defective vision in bright light.[medical-dictionary.thefreedictionary.com] The main symptoms of this syndrome are rod-cone dystrophy (atypical retinitis pigmentosa), postaxial polydactyly, mental retardation, hypogonadism, and renal dysfunction ([frontiersin.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Central Polydactyly of Toes

    […] syndrome Polydactyly postaxial dental and vertebral Polydactyly postaxial with median cleft of upper lip Polydactyly postaxial Polydactyly preaxial type 1 Polydactyly syndrome[fetalultrasound.com] Many affected individuals also eventually lose central vision and become legally blind, often by their mid-teens.[rarediseases.org] Preaxial Polydactyly : Preaxial polydactyly means that the extra digit(s) is on the thumb or big toe side.[adoption.umn.edu]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Mohr Syndrome

    Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third[ncbi.nlm.nih.gov] Patients experience reduced visual acuity, photophobia, acquired color vision defect and central scotomas starting from about 20 years of age and leading to legal blindness[rarediseases.info.nih.gov] Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Bardet-Biedl Syndrome Type 11

    Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info] We report a case of BBS who presented with night blindness, marked central obesity, polydactyly, syndactyly, hypogonadism, micropenis, and behavioral problems, along with[mjdrdypu.org] Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.[ghr.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Saldino-Noonan Syndrome

    […] of Short rib-polydactyly syndrome, Saldino-Noonan type.[checkorphan.org] […] vision loss, night blindness, optic pale disc AR CNNM4 #217080 JOUBERT SYNDROME Pigmentary retinopathy, oculomotor apraxia or difficulty in smooth visual pursuits and jerkiness[eyewiki.aao.org] Keywords: Short rib-polydactyly syndrome Saldino-Noonan type[kjp.or.kr]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Short Rib-Polydactyly Syndrome

    Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia.[ncbi.nlm.nih.gov] Patients typically have night vision blindness and loss of midperipheral visual field.[genecards.org] The diagnosis of short-rib polydactyly syndrome (SRPS) was feasible by ultrasound during the 1st trimester of pregnancy.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Vaginal Atresia

    […] right big toe and fifth toe, and polydactyly of the left foot.[ncbi.nlm.nih.gov] Many affected individuals also eventually lose central vision and become legally blind, often by their mid-teens.[rarediseases.org] She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Senior Loken Syndrome

    Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity[orpha.net] Symptoms of RP range in age of onset and severity, and may include night blindness, progressive loss of peripheral vision, and eventual loss of central vision, leading to[rarediseases.info.nih.gov] Cone function and central visual acuity are maintained until a late stage of the disease.[symptoma.com]

    Missing: Onset of Renal Dysfunction in Early Childhood

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