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567 Possible Causes for Retinal Pigmentation, Round Face, Short Stature

  • Mucopolysaccharidosis 2

    MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.com] Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] pigment epithelium.[ncbi.nlm.nih.gov] Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease.[ncbi.nlm.nih.gov]

  • Neuhauser Syndrome

    Some affected individuals experience growth delays ultimately resulting in short stature.[rarediseases.org] 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]

  • Kearns-Sayre Syndrome

    Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov] The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns-Sayre syndrome (KSS), which is most often[ncbi.nlm.nih.gov] Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[ispub.com]

  • Mucopolysaccharidosis 1

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.com] Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions.[news-medical.net]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Syndrome 1 3q29 Microdeletion Syndrome Achondroplasia Acrocephalopolysyndactyly Type III Alpha-Thalassemia / Mental Retardation Syndrome, Chromosome 16-Related Asymmetric Short[familydiagnosis.com] pigmentation. 18 29 77 78 On MRI the spinal cord may appear small, but other abnormalities are not usually seen.[jnnp.bmj.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com]

  • Aarskog-Scott Syndrome

    At the age of 1.3 years, the child presented an unusual facial appearance and short stature.[doi.org] […] 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]

  • Kniest Dysplasia

    Families with skeletal dysplasias or short stature of known or suspected genetic basis will be enrolled.[clinicaltrials.gov] Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[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] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Growth deficiency continues through childhood and results in disproportionate short stature.[rarediseases.org] Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis - 1 PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene[cegat.de] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org]

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