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104 Possible Causes for Congenital Ear Deformity, Delayed Milestone, Ectopia Lentis

  • CHARGE Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] Developmental delayDelayed motor milestones, language delay, mental retardation Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive[doi.org] lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos (congenital) 759.89 Mieten's 759.89 Mohr's (types I and[icd9data.com]

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] […] contractural deformities of the knees and elbows.[ncbi.nlm.nih.gov] These individuals usually have abnormally formed ears, limited extension of fingers and toes, arachnodactyly, clinodactyly, delay of developmental milestones and psychomotor[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] Careful history-taking for birth defects, sleep disturbance, delayed milestones, chronic ear infections, self-injurious behaviors, and family history are important to recognize[orpha.net] Clinical acumen to identify SMS ‘facial gestalt,’ careful history-taking for birth defects, sleep disturbance, delayed milestones, chronic ear infections, self-injurious behaviors[dx.doi.org]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com] There was a mild global delay in achieving some of her milestones. She completed her schooling with an average performance.[annalsofian.org]

  • Noonan Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] […] with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[orpha.net] milestones Mean age sitting 10 mth, walking 21 mth, two-word sentence 31 mth 10-15 % require special ed IQ usually within normal range, but mild MR seen in 1/3 Verbal lower[en.wikibooks.org]

  • Isolated Ectopia Lentis

    We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance.[ncbi.nlm.nih.gov] WHO-ICD-10 version:2010 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of eye, ear, face and neck Mode of Inheritance Autosomal[cags.org.ae] There was a mild global delay in achieving some of her milestones. She completed her schooling with an average performance.[annalsofian.org]

  • Lens Coloboma

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com] DEVELOPMENTAL EFFECTS OF VISION LOSS (also see Development sections ) Infants with decreased vision will have delayed motor milestones.[chargesyndrome.org]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] […] motor and cognitive milestones • Mild-to-moderate intellectual disability Gastrointestinal • Constipation • Gastroparesis Other • Umbilical and abdominal hernias • Nearsighted[rarediseases.org]

  • Blue Sclera

    Ectopia lentis and blue sclera in hyperhomocysteinaemia.[nmji.in] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q13- Congenital[icd10data.com] Three were referred in the first three months of life because of clicking hips; 14 children aged one to two years, had delayed milestones of motor development and exhibited[ncbi.nlm.nih.gov]

  • Hydrophthalmos

    lentis, Aphakia) Aniridia - Buphthalmos - Hydrophthalmos - Keratoglobus - Coloboma Ears Microtia Other face and neck Otocephaly - Webbed neck - Microstomia - Macrocheilia[bionity.com] Q16.2 Absence of eustachian tube Q16.3 Congenital malformation of ear ossicles Q16.4 Other congenital malformations of middle ear Q16.5 Congenital malformation of inner ear[icd10data.com] The child had history of delayed developmental milestones and seizures.[ispub.com]

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