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402 Possible Causes for Cataract, Macrocephaly, Round Face

  • Mucopolysaccharidosis

    The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]

  • Pseudohypoparathyroidism

    Therefore, the cataract surgeon should be aware of these conditions before removing the lens.[ncbi.nlm.nih.gov] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org]

  • Congenital Muscular Dystrophy

    Clinical Characteristics Ocular Features: Cataracts have been diagnosed by 6 months of age and may be congenital in origin. Several patients have had strabismus.[disorders.eyes.arizona.edu] Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. Increasing age was associated with poor respiratory function in COL6A.[ncbi.nlm.nih.gov] Macrocephaly may be noted.[symptoma.com]

  • Kniest Dysplasia

    The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org] The cataract could also develop as a posteriorcapsular opacity and progress to a total cataract.[jamanetwork.com] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Model: Print Cited Medium: Print NLM ISO Abbreviation: Sem Hop Subsets: OLDMEDLINE 79 Transliterated Title: Polydystrophie de Hürler chez un prématuré; association d'une cataracte[aggr.ukm.um.si] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] […] loss-severe developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-progressive muscular hypotonia-hearing[se-atlas.de]

  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Traumatic paediatric cataract in Victoria 1992–2006.[findanexpert.unimelb.edu.au] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Gorlin Syndrome

    […] or ulcerated and crusted surface were observed on the face and trunk ( Fig. 1 ).[pubmedcentral.nih.gov] […] clinical features include: multiple basal cell carcinoma lesions on the skin palmar pits cysts within the mandible fused or bifid ribs calcification of the falx cerebri cataracts[gpnotebook.co.uk] However, fetal macrocephaly and overgrowth were found at 30 weeks' gestation. Postnatally, the infant manifested characteristic features of Gorlin syndrome.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] […] of nerve tracts, microgyria, abnormal skull, mental and growth retardation, calcific deposits in long bones, craniofacial malformations, hypospadias, glaucoma, seizures, cataracts[whonamedit.com] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Trisomy 12p

    @article{Liu2012ANP, title {A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.}, author {Yan-Hui Liu and[semanticscholar.org] Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental[rarediseases.info.nih.gov] Liu YH, Xie RG, Zhang XY, Wei SD, He Y, et al: A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal and no turbinate.[karger.com]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] […] stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial features, hypertelorism, eye abnormalities (nystagmus, congenital cataracts[orpha.net] Am J Med Genet. 1996;64(3):447-52 Mental retardation, macrocephaly, short stature and craniofacial dysmorphism 0 *Dwarfism *Intellectual Disability *Macrocephaly.[reference.md]

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