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26 Possible Causes for Cataract, Nasal Voice, Prominent High Nasal Root

  • Renpenning Syndrome 1

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] Cataract MedGen UID: 368085 • Concept ID: C1962983 • Finding A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] Other manifestations Small mouth Low-set ears Puckered chin Short neck High-pitched or nasal voice Blepharospasm (sustained, forced closing of the eyelids) Ptosis of the eyelid[forgottendiseases.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    ; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract[howlingpixel.com] People with this condition have a high-pitched, nasal voice and some have a narrowing of the voicebox (subglottic stenosis).[ghr.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Mental retardation cataracts calcified pinnae myopathy[?] Mental retardation coloboma slimness[?] Mental retardation contractural arachnodactyly[?][encyclopedia.kids.net.au] […] speech Nasal voice 0001611 Pectus excavatum Funnel chest 0000767 Prominence of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent[rarediseases.info.nih.gov] […] speech impairment Attention deficit hyperactivity disorder Joint stiffness Trismus Hyperhidrosis Generalized hirsutism Anxiety Splenomegaly Respiratory arrest High pitched voice[mendelian.co]

  • Rigid Spine Syndrome

    The disease has three major subtypes: Mild DM1, characterized by cataract and mild myotonia and normal life span Classic DM1, characterized by myotonia, cataracts, muscle[centogene.com] […] speech Nasal voice 0001611 Nocturnal hypoventilation 0002877 Nonprogressive 0003680 Reduced vital capacity 0002792 Restrictive deficit on pulmonary function testing 0002111[rarediseases.info.nih.gov] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts[rgd.mcw.edu] Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation Narrow[mendelian.co] 900000000000497000 MAPTARGET XE2ux 6011000124106 MAPGROUP 4 6011000124106 MAPTARGET Q69.9 6011000124106 MAPADVICE IF SPINAL MUSCULAR ATROPHY, DANDY-WALKER MALFORMATION, CATARACT[bioportal.bioontology.org]

  • Malpuech Syndrome

    […] epilepsy Hutterite cerebroosteonephrodysplasia syndrome Ayazi syndrome Male pseudohermaphroditism due to defective LH molecule Omenn syndrome Early-onset anterior polar cataract[checkrare.com] [Hair]; Arched, sparse eyebrows VOICE: Nasal speech Trisomy 22 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell[findzebra.com] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov]

  • Ectrodactyly

    Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur.[ncbi.nlm.nih.gov] They had nasal twang in her voice, coarse and sparse hair, sparse eyebrow, oligodontia, soft palatal cleft, hypertelorism, syndactyly, ectrodactyly on both limbs, deep cleft[jisppd.com] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com]

  • Mirhosseini-Holmes-Walton Syndrome

    Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.[doi.org] […] bridge Language impairment Short 5th toe Narrow palpebral fissure Aortic regurgitation Abnormality of the voice Radial deviation of finger Abnormal form of the vertebral[mendelian.co] Characteristic facial features (high-arched or wave-shaped eyelids, thick hair, low hairline, short philtrum as well as long-thick eyelashes, prominent nasal root and upper[findzebra.com]

  • Nemaline Myopathy Type 4

    Type V Boylan Dew Greco Syndrome Bruck syndrome Camptodactyly-Ichthyosis Syndrome CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement Cataract[rgd.mcw.edu] Consequently, patients with this genetic mutation often cannot lift their heads and speak with a nasal voice.[en.wikipedia.org] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk]

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