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1,107 Possible Causes for Nasal Voice, Persistent Notochordal Canal, Small Optic Disc

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] The adolescents produced a range of clicks, which varied in placement (bilabial, dental, alveolar, palatal), voicing (voiced, voiceless), and nasality (nasal, nonnasal).[ncbi.nlm.nih.gov] " voice mouth and feeding problems – including a gap in the top of the mouth or lip (cleft lip or palate), difficulty feeding and sometimes bringing food back up through the[nhs.uk]

    Missing: Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] A nasal tone to the voice and weakness of coughing are early signs of damage to these nerves.[britannica.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • 22q11.2 Duplication Syndrome

    […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org] […] speech Nasal voice 0001611 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 5%-29% of people have these symptoms Abnormality[rarediseases.info.nih.gov] Respiratory and phonatory disorders: strained-strangled voice, decreased loudness, high-pitched voice, poor respiratory support (vocal fatigue at the end of a phrase, reduced[sickkids.ca]

    Missing: Persistent Notochordal Canal
  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Nasal Voice
  • Cleft Palate

    Some kids, however, will continue to sound nasal after cleft palate repair, and some may develop a nasal voice later on.[kidshealth.org] A 4 1/2-year-old child presented with nasal regurgitation and nasal twang of voice.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Oculo-Pharyngo-Distal Myopathy

    Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking.[scinapse.io] […] disease course Weakness Masseter Facial Weakness may be severe Wasting: Orbicularis oris, Malar & Zygomatic muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal[neuromuscular.wustl.edu] Dysphagia and a hoarse or nasal voice occurred in all patients after a disease duration of up to 2 years.[journals.plos.org]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Cold-Induced Sweating Syndrome Type 1

    Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity[orpha.net] Both had additional abnormalities, in clud in g a high-arched palate, nasal voice, depressed nasal bridge, in ability to fully extend the ir elbows, and kyphoscoliosis.[yumpu.com] Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.[genecards.org]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Cleft Lip

    Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head.[ncbi.nlm.nih.gov] Some kids, however, will continue to sound nasal after cleft palate repair, and some may develop a nasal voice later on.[kidshealth.org] Children with a cleft palate may have trouble pronouncing consonants (p, b, t, d, k, g, f, v, s, z) and sounds like sh and ch, and they may have a very nasally sounding voice[rch.org.au]

    Missing: Persistent Notochordal Canal
  • Optic Disc Drusen

    Optic disc drusen were significantly associated with small optic discs (p 0.001).[ncbi.nlm.nih.gov] In addition, she had NVD in both eyes with a small optic disc haemorrhage in the left eye. The retinas appeared normal in both eyes.[nature.com] disc. 10 Our previous study demonstrated a small optic disc as a risk factor for ODD, indicating that axonal distress can be a triggering factor. 10 Therefore, tumors involving[journals.lww.com]

    Missing: Nasal Voice Persistent Notochordal Canal
  • Freeman-Sheldon Syndrome

    The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar[…][ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc

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