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235 Possible Causes for Retinal Pigmentation, Round Face, Short Neck

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[omicsonline.org]

  • Mucopolysaccharidosis 2

    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] Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[symptoma.com]

  • Kniest Dysplasia

    Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1

    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] Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[omicsonline.org] Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities[invitae.com]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    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] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org] […] nevi 10 cases2319 Muscular atrophy - ataxia - retinitis pigmentosa - 10 cases 2959 Pseudo-Zellweger syndrome 10 cases2579 diabetes mellitus 10 cases 2981 Singleton-Merten[fliphtml5.com]

  • Trisomy 12p

    pigmentation, macular abnormality) occur.[epilepsydiagnosis.org] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] […] impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal[epilepsydiagnosis.org]

  • 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] neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org] Individuals with SCT often have affected wrists, ankles, feet, a large forehead, a rounded face, and nostrils that open upward.[diseaseinfosearch.org]

  • Aarskog Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov] Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.[link.springer.com]

  • Dyssegmental Dysplasia Type Rolland-Desbuquois

    […] fibre layer infarction see Cytoid bodies Retinal pathology Retinal perforations Retinal pigment epithelium serous detachment Retinal tear see Retinal perforations Retinal[oppass.co.uk] Symptoms via clinical synopsis from OMIM: 58 Head And Neck Neck: short neck Head And Neck Mouth: cleft palate Chest External Features: narrow chest Skeletal Hands: camptodactyly[malacards.org] […] pigmentosa syndrome Osteoglosphonic dysplasia Otospondylomegaepiphyseal dysplasia Pallister-Hall syndrome Panhypopituitarism Parastremmatic dwarfism Progeria-short stature-pigmented[se-atlas.de]

  • 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] The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com] […] 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]

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