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151 Possible Causes for Cataract, Hypertrichosis of Eyebrows

  • Rubinstein-Taybi Syndrome

    Two patients had presenile or secondary cataracts.[bjo.bmj.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Alpha-Mannosidosis

    […] large head, protruding forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, large tongue, cataracts[secure.ssa.gov] […] may also have ataxia, myopathy, delayed development of motor skills, speech difficulties, increased risk of infections, hepatosplenomegaly, hydrocephalus, hearing loss and cataracts[ivami.com] (e.g. prominent forehead, flat nasal bridge) Skeletal issues (e.g. reduced bone density, bowed knees) Difficulty with coordinated movements Muscle Weakness Hearing loss Cataracts[evolvegene.com]

  • Schwartz-Jampel Syndrome

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] […] developmental, eye, genetic, neurological Phenotypes Abnormality of femoral epiphysis ; Anterior bowing of long bones ; Autosomal recessive inheritance ; Blepharophimosis ; Cataract[mousephenotype.org]

  • Warburg Micro Syndrome 3

    Differential diagnosis Micro syndrome should be considered in any infant with congenital cataract.[rarediseases.info.nih.gov] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org] She presented with bilateral microphthalmia and cataract at birth.[cags.org.ae]

  • Microcornea

    […] systemic anomaly or dysmorphism Cataract microcornea syndrome Microcornea cataract syndrome edit English Cataract-microcornea syndrome Cataract-microcornea syndrome is characterized[wikidata.org] […] vacuoles Submucous cleft hard palate Metaphyseal dysplasia Occipital encephalocele Abnormality of visual evoked potentials Malar flattening Cardiomyopathy Sparse medial eyebrow[mendelian.co] Microcornea cataract syndrome Overview Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic[checkorphan.org]

  • Amaurosis-Hypertrichosis Syndrome

    Rare diseases terms are either (1) terms congenital dominant non nuclear; cataract congenital volkmann type; cataract dental syndrome; cataract hutterite type; cataract hypertrichosis[gilota.xpg.uol.com.br] , associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair .[checkorphan.org] Syndrome Cataract-Dental Syndrome Cataract-Hypertrichosis-Mental Retardation (Cahmr) Syndrome Cataract-Mental Retardation-Hypogonadism Syndrome Cataract-Motor System Disorder-Short[neo-genetics.com]

  • Cerebro-Facio-Thoracic Dysplasia

    Syndrome Cataract-Dental Syndrome Cataract-Hypertrichosis-Mental Retardation (Cahmr) Syndrome Cataract-Mental Retardation-Hypogonadism Syndrome Cataract-Motor System Disorder-Short[neo-genetics.com] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] 2 Cataract 22 2 Cataract 23 3 Cataract 3 2 Cataract 30 1 Cataract 31 1 Cataract 33 2 Cataract 36 1 Cataract 38 2 Cataract 39 2 Cataract 4 1 Cataract 41 1 Cataract 47 1 Cataract[preventiongenetics.com]

  • Acrootoocular Syndrome

    Types Cataract, Lamellar Cataract, Marner Type CTRCT5 CAM 116800 Genetic Test Registry Cataract 6, Multiple Types Cataract, Age-Related Cortical, 2 Cataract, Posterior Polar[ukgtn.nhs.uk] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[entokey.com] SYNDROME/Cataract, microcornea, microphakia, keratoconus, glaucoma, ptosis/AD/LMX1B/#161200 NANCE-HORAN SYNDROME/Congenital cataracts, glaucoma, microphthalmia, microcornea[eyewiki.org]

  • Tricho-Retino-Dento-Digital Syndrome

    Nails Hair Hair: pili canaliculi uncombable hair pili trianguli Genitourinary External Genitalia Male: hypospadias Skeletal Feet: brachydactyly Head And Neck Eyes: juvenile cataract[malacards.org] Confluent eyebrows with hypertrichosis of the medial portions (synophrys) are present in 85% of patients with WS1 and in 25% of patients with WS2.[emedicine.medscape.com] Frequency HPO Source Accession 1 oligodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000677 2 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006 3 juvenile cataract[malacards.org]

  • Wiedemann-Steiner Syndrome

    Clin Dysmorphol 2000 Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome Temtamy et al. Am J Med Genet 1991[pubfacts.com] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] […] paraplegia EEG abnormality Omphalocele Cerebral cortical atrophy Upslanted palpebral fissure Polyhydramnios Abnormality of metabolism/homeostasis Anteverted nares Neoplasm Cataract[mendelian.co]

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