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221 Possible Causes for Delayed Bone Age, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal[ncbi.nlm.nih.gov] CONCLUSION: Our multimodal analysis reported here attempted to contribute to the knowledge of the natural history of GAG deposition in the eye, focusing on the retina and retinal[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[ncbi.nlm.nih.gov] 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] Eye abnormalities and vision problems like brushfield spots, abnormal retinal pigmentation, optic disk pallor, glaucoma and cataract occur as well.[ic.steadyhealth.com]

  • Spondylocarpotarsal Synostosis

    Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this[ncbi.nlm.nih.gov] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net] In addition to the typical findings of this disorder, he demonstrated ossification delay of multiple epiphyses (especially delayed carpal bone age) and bilateral proximal[bio2rdf.org]

  • Vitamin D Deficiency

    Many parts of the human eye, including the epithelium of the cornea, lens, ciliary body, and retinal pigment epithelium, as well as the corneal endothelium, ganglion cell[ncbi.nlm.nih.gov] She presented with fractures during the first year-of-life followed by bone deformities, delayed development, failure-to-thrive, and pneumonias.[ncbi.nlm.nih.gov] NIWA provides a year round daily guide of the UV throughout New Zealand.[health.govt.nz]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] 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] The radiological bone age was found to be delayed.[cags.org.ae]

  • Barth Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] bone age exercise intolerance skeletal muscle myopathy BTHS has an estimated prevalence of 1 in 300,000-400,000 live births.[radiopaedia.org] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Geleophysic Dysplasia

    Cell spreading of adult retinal pigmented epithelial cells (ARPE-19) on fibrillin-1 and fibrillin-2 protein fragments.[journals.plos.org] face with full cheeks.[ncbi.nlm.nih.gov] […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com]

  • Schwartz-Jampel Syndrome

    The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy.[ajol.info] […] back [ more ] 0002808 Mask-like facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Micrognathia Little lower jaw Small jaw[rarediseases.info.nih.gov] […] maturation delay.[scielo.br]

  • SHORT Syndrome

    A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation.[icd10data.com] bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[ncbi.nlm.nih.gov] Many characteristics of full trisomy 21 are quite noticeable—a round face and upturned eyes, and a short, stocky build, for example.[verywellhealth.com]

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