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37 Possible Causes for Bulbous Nose, Cataract, 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] The nose may appear long or bulbous, with overhanging columella.[malacards.org] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

  • Chudley-Rozdilsky Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] […] bifid nose, micrognathia, and abnormalities of the hands and feet / Trigonocephaly bifid nose acral anomalies / Triosephosphate isomerase deficiency / Triphalangeal thumbs[gennome.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract[en.wikipedia.org] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Mental retardation epilepsy bulbous nose[?] Mental retardation epilepsy[?] Mental retardation gynecomastia obesity X linked[?][encyclopedia.kids.net.au]

  • Psychomotor Retardation

    Abstract We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa[ncbi.nlm.nih.gov] The syndrome consists mainly of psychomotor retardation, epilepsy, a bulbous nose and obesity.[ncbi.nlm.nih.gov] Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov]

  • Qazi-Markouizos Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichorhinophalangeal syndrome type 3 Trichothiodystrophy Tricuspid atresia Trigonobrachycephaly, bulbous[herenciageneticayenfermedad.blogspot.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.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] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[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]

  • X-Linked Mandibulofacial Dysostosis

    Retardation-Spasticity-Distal Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract[neo-genetics.com] IS Retinoblastoma-1 RB1 13q14.1-q14.2 180200 Retinoblastoma 180200 AD cleft palate, high forehead, prominent eyebrows, broad nasal bridge, bulbous tip of the nose, large[widesmiles2.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 Protruding[rarediseases.info.nih.gov]

  • Noonan Syndrome

    He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov] Nose is depressed at the top, with a wide base and bulbous tip. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip.[mayoclinic.org] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com]

  • Congenital Disorder of Glycosylation Type 1D

    The patients showed some clinical features previously unreported in ALG3‐CDG, such as bone dysplasia, cataract, corneal opacities, and pons hypoplasia.[ingentaconnect.com] nose 0000414 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebral atrophy Degeneration of cerebrum 0002059 Clinodactyly Permanent curving of the finger 0030084[rarediseases.info.nih.gov] […] syndrome Cataract-hypertrichosis-intellectual disability syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-hypogonadism[se-atlas.de]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    Syndrome Hajdu-Cheney Syndrome Holoprosencephaly Holoprosencephaly 11 Holoprosencephaly 5 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome Intellectual Disability-Cataracts-Calcified[familydiagnosis.com] Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with[orpha.net] […] forehead Facial coarsening Hypertelorism/telecanthus Strabismus Blepharophimosis Downslanting palpebrae Thick alae nasi High nasal root High narrow palate Dental crowding[documents.tips]

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