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480 Possible Causes for Retinal Degeneration, Round Face, Short Neck

  • Mucopolysaccharidosis 2

    Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[] […] 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[] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[]

  • Mucopolysaccharidosis

    Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[]

  • Mucopolysaccharidosis 1

    Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[] Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities[]

  • Kniest Dysplasia

    Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[] 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 [[] The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    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[] degeneration - nanophthalmos - glaucoma1278 Brain calcification, Rajab type 8 cases 1574 Retinohepatoendocrinologic syndrome 7 cases178506 Campomelia, Cumming type 8 cases[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand[]

  • Chromosome 18p Deletion Syndrome

    neck.[] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[] Degeneration (Marie Ataxia] Spondyloepiphyseal dysplasia congenita (SEDC).[]

  • Pseudohypoparathyroidism

    neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements to maintain a proper[] Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[] Patients are short in stature with a short neck, chubby cheeks, round face, and a flattened nasal bridge.[]

  • Cold-Induced Sweating Syndrome Type 1

    […] facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short[] (AMD) To confirm/establish the diagnosis, we offer retinitis pigmentosa panel sequencing and deletion/duplication gene testing.[] Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental[]

  • Onat Syndrome

    neck Decreased length of neck 0000470 Synostosis of carpal bones Fusion of wrist bones 0005048 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type[] Mental Retardation infancy electroclinical syndrome Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development infantile cerebellar-retinal[] 1500 μm (ii) Broad: Width of attachment 1500 μm (i) Concurrent: Associated with other macular abnormalities (e.g. age-related macular degeneration, retinal vein occlusion[]

  • Distal Arthrogryposis Type 5D

    , slightly webbed neck with limited head movement, and puckering of the tongue (Fig. 1 a-c).[] face; arched eyebrows; a bulbous,\nupturned nose; and micrognathia.[] Optic atrophy 9 616289 100850 Autosomal recessive ACO2 22q13.2 Infantile cerebellar-retinal degeneration 614559 100850 Autosomal recessive ACOX1 17q25.1 Peroxisomal acyl-CoA[]

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