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581 Possible Causes for Developmental Delay, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis 2

    Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com] […] 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] Retinal degeneration is seen to a lesser degree in MPS IIB. Patients diagnosed with MPS IIB can live beyond the fifth decade of life.[emedicine.medscape.com]

  • Mucopolysaccharidosis

    He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays.[ncbi.nlm.nih.gov] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Affected subjects present developmental delay, attention deficit disorder, uncontrollable hyperactivity, and aggressive behavior, followed by progressive dementia and death[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com]

  • Alstrom Syndrome

    delay, and most case had both childhood-onset obesity and hyperinsulinemia.[ncbi.nlm.nih.gov] 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[symptoma.com] 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).[ncbi.nlm.nih.gov]

  • Laurence Moon Syndrome

    He also had mental retardation and developmental delay. 6.[de.slideshare.net] Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome.[ijo.in] Laurence-Moon-Biedl syndrome A rare genetic disorder featuring mental retardation, extra toes or fingers, and a retinal degeneration, RETINITIS PIGMENTOSA, that may progress[medical-dictionary.thefreedictionary.com]

  • Neuhauser Syndrome

    Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.[connection.ebscohost.com] 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] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com]

  • Chromosome 18p Deletion Syndrome

    Features that often occur in people with chromosome 18p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[malacards.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] Degeneration (Marie Ataxia] Spondyloepiphyseal dysplasia congenita (SEDC).[neurometplus.com]

  • Pseudohypoparathyroidism

    She has a history of developmental delays and seizure disorder.[omicsonline.org] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[nlm.nih.gov] Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[doi.org]

  • Zellweger Syndrome

    On follow-up, global developmental delay, bilateral optic nerve atrophy and moderate bilateral sensorineural deafness grade II were documented.[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] Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[ninds.nih.gov]

  • Cockayne Syndrome

    The Cockayne syndrome is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin sensitivity to sunlight.[ncbi.nlm.nih.gov] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] A sun-sensitive boy (XP20BE) who had severe symptoms of CS, with dwarfism, microcephaly, retinal degeneration, and mental impairment, had XP-type pigmentation and died at[ncbi.nlm.nih.gov]

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