Create issue ticket

134 Possible Causes for High Pitched Voice, Microphthalmos

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org]

  • Fraser Syndrome

    Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] No focal neurological deficits were evident although it was noted that the patient wore a hearing aid and had a high-pitched voice.[academic.oup.com] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[ijponline.biomedcentral.com]

  • Dubowitz Syndrome

    […] imperfecta type 3 Pyruvate kinase deficiency Familial thoracic aortic aneurysm and dissection Frank Ter Haar syndrome STAR syndrome Nablus mask-like facial syndrome Microcephaly microphthalmos[checkrare.com] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]

  • Seckel Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality[rarediseases.info.nih.gov]

  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] high pitched and nasal.[jmg.bmj.com] […] intellectual disabilities) 759.89 Marchesani (-Weill) (brachymorphism and ectopia lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos[icd9data.com]

  • Pfeiffer-Palm-Teller Syndrome

    Aughton syndrome 0 *Abnormalities, Multiple *Cleft Palate *Dextrocardia *Intellectual Disability *Microphthalmos.[reference.md] Voice Annotation Sufficiency: ?[monarchinitiative.org] Thomas Jewett Raines syndrome 0 *Abnormalities, Multiple *Microphthalmos *Truncus Arteriosus, Persistent *Facies Ear/abnormalities.[reference.md]

  • Disorder of Sex Development - Intellectual Disability Syndrome

    […] language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Autosomal recessive inheritance 0000007 Bilateral microphthalmos[rarediseases.info.nih.gov] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com] :0000567 27 abnormality of the face 60 Very frequent (99-80%) 28 abnormal hair pattern 60 Very frequent (99-80%) 29 male pseudohermaphroditism 33 HP:0000037 30 bilateral microphthalmos[malacards.org]

  • Isolated Congenital Sclerocornea

    The condition is often associated with other local and systemic anomalies like microphthalmos, anomalies a t the angle of the anterior chamber (Franceschetti, 1946; Goldstein[documents.tips] pitched voice Slurred speech Unilateral renal agenesis Ectopic kidney Sensory axonal neuropathy Broad-based gait Short chin Dysdiadochokinesis Bradykinesia Goiter Bone marrow[mendelian.co] In most patients, the eye on the affected side or sides is also abnormally small (microphthalmos).[rarediseases.org]

  • Cole-Carpenter Syndrome

    […] structural abnorm: EYE DISEASES, HEREDITARY is also available Examples Aniridia ; Anophthalmos ; Blepharophimosis ; Coloboma ; Ectopia Lentis ; Fraser Syndrome ; Hydrophthalmos ; Microphthalmos[reference.md] pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia[rarediseases.info.nih.gov] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[en.wikipedia.org] pitched voice Nasal speech Ventricular hypertrophy Limb muscle weakness Feeding difficulties in infancy Delayed skeletal maturation Visual impairment Abnormality of the pinna[mendelian.co] Microcephaly microphthalmos blindness[?] Microcephaly nonsyndromal[?] Microcephaly pontocerebellar hypoplasia dyskinesia[?][encyclopedia.kids.net.au]

Further symptoms

Similar symptoms