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218 Possible Causes for Retinal Degeneration, Round Face, Short Finger

  • Mucopolysaccharidosis

    […] wide nostrils Thick, tough skin Short, broad hands with curving fingers Knock-knees and walking on toes Curved spine Continued MPS I can show up in a lot of different ways[] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[] Corneal clouding was mentioned as another symptom characteristic of MPS and may be associated with glaucoma, retinal degeneration, and optic nerve swelling with subsequent[]

  • Mucopolysaccharidosis 2

    fingers.[] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[] , broad hands with stiff, curled fingers He'll probably have these symptoms: Joint problems that make it hard to move Numbness, weakness, and tingling in his hands A lot of[]

  • Pseudohypoparathyroidism

    Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[] fingers.[]

  • Mucopolysaccharidosis 1

    […] wide nostrils Thick, tough skin Short, broad hands with curving fingers Knock-knees and walking on toes Curved spine Continued MPS I can show up in a lot of different ways[] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[] Hand and wrist involvement are also common and include decreased wrist range of motion, stiffening of the IP joint and curved finger.[]

  • 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[] Some affected individuals experience growth delays ultimately resulting in short stature.[] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[]

  • Laurence Moon Syndrome

    Laurence-Moon-Biedl syndrome A rare genetic disorder featuring mental retardation, extra toes or fingers, and a retinal degeneration, RETINITIS PIGMENTOSA, that may progress[] Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome.[] fingers and/or thumbs) syndactyly (digits joined together) diabetes mellitus dental and roof of mouth abnormalities (high-arched palate) cardiovascular anomalies (high blood[]

  • Alstrom Syndrome

    degeneration before the age of 1 year (P 0.02), the occurrence of urological dysfunction (P 0.02), of DCM (P 0.03), and of diabetes (P 0.03).[] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[] Patients have distinctive facial characteristics (deep-set eyes with a rounded face, thick ears, premature frontal balding, and thin hair).[]

  • Kniest Dysplasia

    All of the patients had congenital severe myopia and vitreoretinal degeneration. Four patients developed rhegmatogenous retinal detachments.[] 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[] Kniest dysplasia A rare subtype of collagenopathy (types II and XI) characterised by defective bone growth with short-trunk, short-limb dwarfism, painful enlarged joints leading[]

  • Brachydactyly

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 6;100(4):592-604.[] This peculiar phenotype also includes small stature, obesity with rounded face, sc ossifications, and mental retardation and is described in some subjects with pseudohypoparathyroidism[] I have written several times about symbrachydactyly - that is short, webbed fingers.[]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    degeneration - nanophthalmos - glaucoma1278 Brain calcification, Rajab type 8 cases 1574 Retinohepatoendocrinologic syndrome 7 cases178506 Campomelia, Cumming type 8 cases[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] […] and broad, and there was metacarpal shortness of right 3rd and 4th fingers.[]

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