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4,866 Possible Causes for Cataract, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Sensorineural hearing loss and cataract may occur before the age of 30.[ncbi.nlm.nih.gov] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    Lowe Syndrome : Congenital disorder characterized by cataracts, infantile glaucoma, renal dysfunction and intellectual impairment.[accessanesthesiology.mhmedical.com] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com]

  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] Two patients had presenile or secondary cataracts.[bjo.bmj.com] Self-mutilation Deliberate self-harm Self mutilation [ more ] 0000742 Shawl scrotum 0000049 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    […] patients have been reported to have hearing loss (14/89 males and 1/22 females) Clustering of hearing loss in families may occur Significant vision problems are uncommon Cataracts[en.wikibooks.org] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov]

  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] […] and nystagmus * Cataract, posterior polar, 1 * Cataract, posterior polar, 5 * Cataract, total congenital * Cataract, zonular * Cataract,posterior polar, 3 * Cataract,posterior[medicalgeek.com] transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co]

    Missing: Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] Left postaxial polydactyly, bilateral single transverse palmar creases were present with absent interphalangeal creases on both thumbs.[indianpediatrics.net] […] characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] […] of nerve tracts, microgyria, abnormal skull, mental and growth retardation, calcific deposits in long bones, craniofacial malformations, hypospadias, glaucoma, seizures, cataracts[whonamedit.com] Eye findings include cataracts, glaucoma, pigmentary retinopathy, nystagmus, corneal clouding and optic nerve atrophy. Visual changes and loss are progressive.[orpha.net]

    Missing: Overfolded Superior Helix
  • Laurence Moon Syndrome

    transverse palmar creases 0007598 Brachycephaly Short and broad skull 0000248 Brachydactyly Short fingers or toes 0001156 Cataract Clouding of the lens of the eye Cloudy[rarediseases.info.nih.gov] Retinitis pigmentosa, nystagmus, choroidal atrophy, cataract and squint. Micropenis with hypoplastic scrotum. Type 2 diabetes mellitus. General learning disability.[patient.info] Especially for Macular degeneration • Glaucoma • Stargardt’s Syndrome • Retinal Detachment • Optic Neuritis • Diabetic Retinopathy • Retinitis Pigmentosa • Optic Nerve Atrophy • Cataracts[pinterest.cl]

    Missing: Overfolded Superior Helix
  • Isolated Congenital Sclerocornea

    transverse palmar crease Exotropia Delayed cranial suture closure Broad hallux Fibroma Encephalitis Recurrent upper respiratory tract infections Bicuspid aortic valve Spina[mendelian.co] -- Morgagnian cataract Intumescent cataract Cerulean cataract Intumescent cataract- swelling inside cataract with abundant amount of water Cerulean cataract-Bluish opacity[brainscape.com] Types Cataract, Lamellar Cataract, Marner Type CTRCT5 CAM 116800 Genetic Test Registry Cataract 6, Multiple Types Cataract, Age-Related Cortical, 2 Cataract, Posterior Polar[ukgtn.nhs.uk]

    Missing: Overfolded Superior Helix
  • Foveal Hypoplasia - Presenile Cataract Syndrome

    AD 4 10 CRYBB1 Cataract AD/AR 7 18 CRYBB2 * Cataract AD 10 27 CRYBB3 Cataract AR 3 7 CRYGC Cataract AD 10 28 CRYGD Cataract AD 10 26 CRYGS Cataract, progressive polymorphic[blueprintgenetics.com] transverse palmar crease Gliosis Wide intermamillary distance Cutis marmorata telangiectatica congenita Oligohydramnios Blue sclerae Small nail Wide anterior fontanel Retinal[mendelian.co] Symptoms of Foveal hypoplasia and presenile cataract syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Generalized hyperpigmentation[familydiagnosis.com]

    Missing: Overfolded Superior Helix

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