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McPherson-Robertson-Cammarano Syndrome

Ptosis - Strabismus - Ectopic Pupils


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Presented in ten chapters from anatomy and differential diagnoses to surgical interventions, this book shows the latest surgical techniques firstly through line drawings before moving to clinical photographs of the techniques.[books.google.com]
  • A rombinedjerk and pendular horizontal nystagmus was present.[docslide.com.br]
  • High risk of epilepsy Seizures occur in 90% of patients and typically present in early childhood, with a peak incidence around ages 6-12 months. [14].[emedicine.medscape.com]
  • Systemic Features: Short stature and global developmental delay are usually present. Poor or absent speech is characteristic and intellectual disability may be severe. Few individuals can walk. Foot deformities and hypotonia are often present.[disorders.eyes.arizona.edu]
Physician
  • Quickly reference information with help from a convenient outline format, ideal for today’s busy physician.[books.google.de]
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • Pediatric ophthalmology offers particular challenges to the ophthalmologist, pediatrician, and family physician. Symptoms are often nonspecific, and the usual examination techniques require modification.[accessmedicine.mhmedical.com]
  • Iatrogenic (induced inadvertently by physician) as in abnormally high or curved dacryocystorhinostomy (DCR) incision. As a part of congenital syndrome e.g. Down’s syndrome. Epicanthus may be a normal feature in Asians.[aimu.us]
  • Their primary care physician told them it was a “stye” and the patient was prescribed cephalexin 500 mg by mouth three times a day for 10 days and warm compresses.[healio.com]
Multiple Congenital Anomalies
  • congenital anomaly Kabuki makeup syndrome KasznicaCarlsonCoppedge syndrome Keutel syndrome 2 Koussef nichols syndrome KousseffNichols syndrome KurczynskiCasperson syndrome Lateral meningocele syndrome Lathosterolosis Lowe syndrome LujanFryns syndrome[wikidoc.org]
  • Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. Am J Hum Genet. 2016 Apr 7;98(4):643-52.[disorders.eyes.arizona.edu]
High Arched Palate
  • Overview A very rare syndrome characterized mainly by droopy eyelids, crossed eyes and ectopic pupil Symptoms - Ptosis strabismus ectopic pupils * Droopy eyelids * Cross eyed * Ectopic pupil * High arched palate Causes - Ptosis strabismus ectopic pupils[checkorphan.org]
  • arched palate, bifid uvula Absent, hypoplastic, or abnormally located thymus Hypocalcemia Nasal regurgitation of feeds Feeding disorders/failure to thrive/gastroesophageal reflux Facial dysmorphia (especially abnormal ear or nose) Toddler/school-aged[circ.ahajournals.org]
  • Clinical: Hydrocephalus; agenesis of corpus callosum; congenital heart defects; mental retardation; low-set malformed ears; broad nasal bridge; micrognathia; short neck ; hand anomalies; high-arched palate; widely spaced nipples; deformity of feet; respiratory[dentisty.org]
Broad Eyebrows
  • […] retinopathy XLD HCCS #309801 SYNDROMIC MICROPHTHALMIA 8 Microphthalmia, Microcornea, short palpebral fissures AD - %601349 SYNDROMIC MICROPHTHALMIA 9 (MATTHEW-WOOD SYNDROME) Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia, blepharophimosis, broad[eyewiki.aao.org]
  • […] retinopathy/XLD /HCCS /#309801 SYNDROMIC MICROPHTHALMIA 8/Microphthalmia, Microcornea, short palpebral fissures/AD/-/%601349 SYNDROMIC MICROPHTHALMIA 9 (MATTHEW-WOOD SYNDROME)/Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia, blepharophimosis, broad[eyewiki.org]
Ptosis
  • Prevention - Ptosis strabismus ectopic pupils Not supplied. Diagnosis - Ptosis strabismus ectopic pupils * Eye Tests * Vision Tests Prognosis - Ptosis strabismus ectopic pupils Not supplied. Treatment - Ptosis strabismus ectopic pupils Not supplied.[checkorphan.org]
  • Haus Home Kartenmarker Quick overview Universität Core facilities for Rare Diseases Krankenhaus Parent facilities Zertifikat Certificates Kreisel European Reference Networks Einloggen Login A- A A beta beta Ptosis-strabismus-ectopic pupils syndrome Rare[se-atlas.de]
  • MalaCards based summary : Ptosis, Strabismus, and Ectopic Pupils, also known as ptosis-strabismus-ectopic pupils syndrome , is related to mcpherson robertson cammarano syndrome .[malacards.org]
  • The book also covers the surgical management of other associated conditions i.e. telecanthus, epicanthus, and ectropion that may need to be managed in conjunction with Ptosis and contains an invaluable list of drugs reported to induce Ptosis and syndromes[books.google.com]
  • Orpha Number: 2999 Disease definition Ptosis - strabismus -ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children).[rarediseases.info.nih.gov]
Strabismus
  • Prevention - Ptosis strabismus ectopic pupils Not supplied. Diagnosis - Ptosis strabismus ectopic pupils * Eye Tests * Vision Tests Prognosis - Ptosis strabismus ectopic pupils Not supplied. Treatment - Ptosis strabismus ectopic pupils Not supplied.[checkorphan.org]
  • […] of ptosis, strabismus and ectopic pupils.[malacards.org]
  • Haus Home Kartenmarker Quick overview Universität Core facilities for Rare Diseases Krankenhaus Parent facilities Zertifikat Certificates Kreisel European Reference Networks Einloggen Login A- A A beta beta Ptosis-strabismus-ectopic pupils syndrome Rare[se-atlas.de]
  • Orpha Number: 2999 Disease definition Ptosis - strabismus -ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children).[rarediseases.info.nih.gov]
  • Mcpherson Robertson Cammarano Syndrome Mcpherson Robertson Cammarano Syndrome Mcpherson-Robertson-Cammarano Syndrome References: McPherson E. et al "Dominantly inherited ptosis, strabismus and ectopic pupils" Clin Genet. 1976 Jul;10(1):21-6 The statements[wellnessadvocate.com]
Blepharoptosis
  • Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS).[profiles.ucdenver.edu]
  • ., ,, Source MeSH Abdominal Muscles Abnormalities, Multiple Blepharoptosis Child Cryptorchidism Female Genes, Recessive Hip Dislocation, Congenital Humans Male Pedigree Pregnancy Strabismus Syndrome Pub Type(s) Case Reports Journal Article Language eng[unboundmedicine.com]
  • Oculomotor nerve palsy generally presents with mydriasis, blepharoptosis, and impairment of extraocular muscle movement. The incidence of primary traumatic oculomotor nerve palsy in craniocerebral trauma is approximately 1.2% [ 1 ].[e-aps.org]
  • No spinal abnormalities are reported from patients in spite of compensatory head tilt from blepharoptosis.[aimu.us]
  • […] high myopia JME, 7/71 MASS phenotype anomalies of hands and feet Juvenile sulfatidosis and ectopia lentis Blepharoptosis myopia ectopia Petit mal impulsive Overlap connective tissue disease Syncamptodactyly scoliosis Sulfatidosis juvenile Austin type[yumpu.com]
Almond-Shaped Eyes
  • […] constriction XLD CHM #303100 CHRISTIAN SYNDROME Cranial nerve VI palsy X-linked - %309620 CHRISTIANSON SYNDROME Ophthalmoplegia, deep-set eyes, bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped[eyewiki.aao.org]
  • […] constriction/XLD /CHM/#303100 CHRISTIAN SYNDROME/Cranial nerve VI palsy/X-linked/-/%309620 CHRISTIANSON SYNDROME/Ophthalmoplegia, deep-set eyes, bushy eyebrows/XLD/SLC9A6/#300243 CK SYNDROME/Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped[eyewiki.org]
Conjunctival Disease
  • disease Pfeil rechts Rare palpebral, lacrimal system and conjunctival disease Pfeil rechts Rare palpebral disease Pfeil rechts Kinetic eyelid anomaly Pfeil rechts Rare disorder with ptosis Pfeil rechts Ptosis-strabismus-ectopic pupils syndrome Further[se-atlas.de]
Muscle Weakness
  • If left untreated in infants it can impair the development of vision, and in adults it may be an indicator of muscle weakness, endocrine disease, cancer or poisoning.[books.google.com]
  • With horizontal eye muscle weakness the patient tends to turn her face to the side of the underacting horizontal rectus muscle to relieve diplopia.[reviewofophthalmology.com]
  • […] acute chest syndromes, leg ulceration, priaprism, autosplenectomy, stroke Term Lambert-Eaton myasthenic syndrome Definition LEMS (d/o of NM junction) mech: IgG autoAb against voltage-dependent calcium channels at NM synapse - inhibits ACh release - muscle[flashcardmachine.com]
  • […] white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros AR TYR, OCA2, TYRP1, or SLC45A2, MC1R Multiple OCULOPHARYNGEAL MUSCULAR DYSTROPHY Progressive blepharoptosis beginning most often in the 5th decade of life, facial muscle[eyewiki.aao.org]
  • Complete ocular examination: Check for pupillary involvement, the directions of motility restriction (in both eyes), ptosis, a visual field defect (visual fields by confrontation), proptosis, resistance to retropulsion, orbicularis muscle weakness, and[entokey.com]
Paresis
  • It most commonly causes confusion between true paresis of a superior oblique and apparent paresis of the contralateral superior rectus.[reviewofophthalmology.com]
  • Force generation testing must be performed with the patient awake, and is used to identify whether muscle paresis is present.[clinicalgate.com]
  • Clinical: Excessive salivation; failure to thrive; recurrent respiratory infections; diarrhea; insensitivity to pain; spontaneous fractures; pandysautonomia; orthostatic hypotension; gastrointestinal paresis; decreased fungiform papillae on the tongue[dentisty.org]
  • If he or she rotates the top of this vertical axis outward (away from the nose) for more than 10 degrees total for the two eyes, then a bilateral superior oblique muscle paresis is likely present. 5.[entokey.com]
  • Term Definition motor/vocal tics (unvoluntary and uncontrolled) commonly assoc c OCD and ADHD tx: antipsychotic agents Term medial medullary syndrome Definition caused by loss of ant spinal artery blood supply charac by: pyramid - contralateral spastic paresis[flashcardmachine.com]

Workup

  • This important diagnosis needs rapid workup and treatment. Other differentials include metastatic tumors such as leukemia and neuroblastoma, which can both exhibit proptosis and orbital ecchymosis.[healio.com]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment - Ptosis strabismus ectopic pupils Not supplied. Resources - Ptosis strabismus ectopic pupils Not supplied.[checkorphan.org]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Vincristine and actinomycin treatments were started, and radiation treatments are scheduled to start soon. The size of the orbital mass has already dramatically decreased.[healio.com]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]

Prognosis

  • Diagnosis - Ptosis strabismus ectopic pupils * Eye Tests * Vision Tests Prognosis - Ptosis strabismus ectopic pupils Not supplied. Treatment - Ptosis strabismus ectopic pupils Not supplied. Resources - Ptosis strabismus ectopic pupils Not supplied.[checkorphan.org]
  • There is a worse prognosis with tumor spread into paranasal sinuses and parameninges.[healio.com]
  • The prognosis of oculomotor nerve palsy varies according to its etiology and the associated neurological problems.[e-aps.org]
  • Presentation and prognosis of infarcts and hemorrhages. Steinke, W., Sacco, R.L., Mohr, J.P., Foulkes, M.A., Tatemichi, T.K., Wolf, P.A., Price, T.R., Hier, D.B. Arch.[wikigenes.org]
  • Prognosis Majority of children of Asian ancestry lose their folds during and after puberty. Surgical correction is successful in majority of cases of epicanthus. References : Traboulsi Elias I. Genetic Diseases of the Eye. Second Edition.[aimu.us]

Etiology

  • Etiology Tertiary syphilis. Work-Up 1.[entokey.com]
  • The prognosis of oculomotor nerve palsy varies according to its etiology and the associated neurological problems.[e-aps.org]
  • A CT scan or MRI should be performed to rule out other etiologies in the differential diagnosis, and then a biopsy is required for def- initive diagnosis.[healio.com]
  • […] prominent glabella, pulmonary isomerism, common mesentery, hypospadias, sacral dimple Major anomalies – Intrauterine growth retardation, microcephaly, cleft palate, corpus callosum agenesis, ventricular septal defect, diaphragmatic hernia, renal hypoplasia Etiology[primumn0nn0cere.wordpress.com]
  • Roussy-Cornil Syndrome 1111 General: Etiology unknown; sporadic hypertrophic neuropathy; onset in second to third decade of life or later; progressive; occasionally, remissions and exacerbations. Ocular: Sluggish pupils; disturbed vision.[dentisty.org]

Epidemiology

  • Rift Valley fever ecology and the epidemiology of disease emergence. Ann NY Acad Sci 1994; 740: 169-180. Yoser SL, et al. Systemic viral infections and their retinal and choroidal manifestations. Surv Ophthalmol 1993; 37:313-352.[dentisty.org]
  • Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23:856-60. Wagner R, Thom E, Simpson JL, et al. First semester screening for trisomies 21 and 18.[rarediseases.org]
  • Optic nerve hypoplasia: risk factors and epidemiology. Acta Ophthalmol Scand 2002; 80 : 300–304. 6 Jan JE, Robinson GC, Kinnis C, MacLeod PJ. Blindness due to optic-nerve atrophy and hypoplasia in children: an epidemiological study (1944–1974).[nature.com]
  • HIRSUTISM PHYSICAL EXAM: Return to top CHAPTER 9: MUSCULOSKELETAL EPIDEMIOLOGY : COMMON MUSCULOSKELETAL DISEASES BY AGE: Childhood: Juvenile RA, Rheumatic Fever Young adult: Reiter's Syndrome, SLE Middle Age: Fibrositis Old Age: Osteoarthritis COMMON[kumc.edu]
Sex distribution
Age distribution

Pathophysiology

  • The exact pathophysiology of oculomotor palsy is not well understood. However, it is generally assumed that lesions in the sphenocavernous region, the orbital apex, and the brain stem may affect the oculomotor nerve.[e-aps.org]
  • Premature cataract formation Cataract surgery often needed in childhood or youth Subluxation or lentis ectopia caused by insufficient zonular fibres stability Intraocular pressure Aniridia related secondary glaucoma often starts in childhood Mechanism/pathophysiology[en.pmarchive.ru]

Prevention

  • Prevention - Ptosis strabismus ectopic pupils Not supplied. Diagnosis - Ptosis strabismus ectopic pupils * Eye Tests * Vision Tests Prognosis - Ptosis strabismus ectopic pupils Not supplied. Treatment - Ptosis strabismus ectopic pupils Not supplied.[checkorphan.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Prevention respectively delay of corneal complications? Up to now, there is no evidence-based prevention of AAK.[en.pmarchive.ru]
  • We employed steroid therapy to reduce periorbital swelling and possible endoneurial edema, in order to prevent secondary neuronal damage. Solu-Medrol (1 mg/kg, methylprednisolone) was injected intravenously for four days after the operation.[e-aps.org]
  • It is associated with poor development of the retina at the back of the eye preventing normal vision development.[bionity.com]

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