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11 Possible Causes for Cataract, Phimosis, 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

    Congenital blepharophimosis (Phimosis Palpebrum, von Ammon, 1841) 1 is described as a general diminution of the palpebral aperture in all its dimensions but with the eyelids[doi.org] Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] 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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract[academickids.com] […] 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] Feeding difficulties in infancy Delayed skeletal maturation Visual impairment Abnormality of the pinna Distal arthrogryposis Adducted thumb Acidosis Breech presentation Phimosis[mendelian.co]

  • 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] 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] For Paronychia, Ayurveda Treatment For Perforated Eardrum, Ayurveda Treatment For Perirectal Abscess, Ayurveda Treatment For Peritonsillar Abscess, Ayurveda Treatment For Phimosis[ayurdoctor.com]

  • Malpuech Syndrome

    In males, cryptorchidism (17/54, 31.5%), micropenis, phimosis, chordee, hypospadias, and scrotal hypoplasia were noted.[jmg.bmj.com] […] epilepsy Hutterite cerebroosteonephrodysplasia syndrome Ayazi syndrome Male pseudohermaphroditism due to defective LH molecule Omenn syndrome Early-onset anterior polar cataract[checkrare.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]

  • Mirhosseini-Holmes-Walton Syndrome

    Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.[doi.org] 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] Irregular hyperpigmentation Obesity Kyphoscoliosis Coloboma Hypopigmentation of the skin Pectus excavatum Dandy-Walker malformation Exotropia Abnormality of dental morphology Phimosis[mendelian.co]

  • Congenital Disorder of Glycosylation Type 1Q

    […] hypoglycemia Adrenal hypoplasia Camptodactyly Round ear Broad forehead Abnormality of the cerebral white matter Flat face Downturned corners of mouth Joint hypermobility Round face Phimosis[mendelian.co] Both of our patients have severe visual impairment, optic atrophy, and cataracts.[bmcmedgenet.biomedcentral.com] […] bridge ; Prominent, high and nasal root; Tubular nose; [Mouth]; Thin upper lip; Drooling; [Teeth]; Crowded teeth ABDOMEN: [Gastrointestinal]; Chewing abnormalities GENITOURINARY[findzebra.com]

  • Pancreatic Insufficiency - Anemia - Hyperostosis Syndrome

    Phantom Limb Pharyngeal Diseases Pharyngeal Neoplasms Pharyngitis Phencyclidine Abuse Phenylketonuria, Maternal Phenylketonurias Pheochromocytoma Philadelphia Chromosome Phimosis[medgene.med.harvard.edu] ] CRYGC P07315 non-pleiotropic Cataract 2, multiple types (CTRCT2) [MIM: 604307 ] CRYGD P07320 non-pleiotropic Cataract 4, multiple types (CTRCT4) [MIM: 115700 ] CRYGS P22914[sbg.bio.ic.ac.uk] Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences[ncbi.nlm.nih.gov]

  • Ectodermal Dysplasia - Syndactyly Syndrome

    **Other features includes bilateral epiphora, joints hypermobility, hearing loss, hepatosplenomegaly, hypospadia, urethral stricture, phimosis, syndactily, recurrent otitis[iedn.org] […] dry, sparse, slow growing hair Eyes Small cornea Small eyes Short opening between the eye lids Skin fold of the upper eyelid, covering the inner corner of the eye Glaucoma Cataract[nfed.org] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com]

  • Lymphedema - Cerebral Arteriovenous Anomaly Syndrome

    […] surgery, bilateral Oth disorders of the eye following cataract surgery, bi; Bilateral eye disorder after cataract surgery ; Disorder of bilateral eyes following cataract[icd10data.com] During adolescence, the nasal bridge is thinner and higher, with a “pinched” root and wide base, and the eyes appear less prominent.[rarediseases.org] 758.9) testicular feminization syndrome (259.5) 752.8 Other specified anomalies of genital organs Excludes: congenital hydrocele (778.6) penile anomalies (752.61-752.69) phimosis[theodora.com]

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