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61 Possible Causes for Cataract, Hypertrichosis of Eyebrows, Short Stature in Children

  • 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] stature and skeletal dysplasia.[ncbi.nlm.nih.gov] 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]

  • Rubinstein-Taybi Syndrome

    Two patients had presenile or secondary cataracts.[bjo.bmj.com] Children with RTS usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size.[cafamily.org.uk] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Warburg Micro Syndrome 3

    Differential diagnosis Micro syndrome should be considered in any infant with congenital cataract.[rarediseases.info.nih.gov] […] microphthalmia, congenital cataract, ptosis, short stature, severe mental retardation, and cerebral malformations.[cags.org.ae] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org]

  • SHORT Syndrome

    There was no glaucoma or cataract. There was marked deviation of nasal septum to left side with secondary hypertrophy of turbinates.[indianpediatrics.net] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.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] More than half of patients, in some series, meet the criteria for mental retardation. 54 Less frequent features include microcephaly, short stature, slender hands and digits[ajnr.org] 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]

  • 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] Investigation of pituitary function should be undertaken in children with WSS and short stature.[ncbi.nlm.nih.gov] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Autosomal Dominant Mental Retardation Type 21

    Figure 1 Pedigree of the studied family showing autosomal recessive inheritance of the congenital cataract.[iovs.arvojournals.org] Affected children have a short stature with an average height below the 5th percentile. Bone age is delayed in the first decade of life.[content.sciendo.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • Thanatophoric Dysplasia

    METATROPIC DYSPLASIA Is also known as metatropic dwarfism;metatropic dwarfism Related symptoms: Autosomal dominant inheritance Hearing impairment Scoliosis Cleft palate Cataract[mendelian.co] Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives.[ghr.nlm.nih.gov] […] degree the femur), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata), coronal clefts of the vertebral bodies, and cataracts[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    […] patients have been reported to have hearing loss (14/89 males and 1/22 females) Clustering of hearing loss in families may occur Significant vision problems are uncommon Cataracts[en.wikibooks.org] Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short[ncbi.nlm.nih.gov] 0006288 Aplasia/Hypoplasia of the cerebellum Absent/small cerebellum Absent/underdeveloped cerebellum [ more ] 0007360 Aplasia/Hypoplasia of the corpus callosum 0007370 Cataract[rarediseases.info.nih.gov]

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