Clinical: Moderate progressive mental retardation; skeletal changes of dysostosis multiplex; peripheral neuropathy; myoclonic jerks; tremor; cerebellar signs ; gait abnormalities. Carta F, et al. Mucolipidosis 1: ocular signs in three sisters. [dentisty.org]

Molluscum Contagiosum 829 General: Etiologic agent of this disease is a poxvirus that can cause proliferative skin lesions anywhere on the body ; commonly found in patients who are immunosuppressed. [dentisty.org]

Localized scleroderma. Clin Dermatol 1994; 12:237-242. Maricq HR. Capillary abnormalities, Raynaud's phenomenon, and systemic sclerosis in patients with localized scleroderma. Arch Dermatol 1992; 128:630-632. Trevisan G, et al. [dentisty.org]

Rare diseases Search Search for a rare disease Postaxial acrofacial dysostosis Disease definition Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped [orpha.net]

Craniofacial malformations might consist of underdevelopment of the cheekbones (malar hypoplasia); an unusually little mandible (micrognathia); insufficient closure of the roofing of the mouth (cleft taste buds); little, sticking out, “cup-shaped” ears [valleyfamilymedicineurgentcarecenter.com]

Facial abnormalities include micrognathia, cleft lip and/or palate, coloboma of the eyelids, ectropion, downward slanting palpebral fissures, cup-shaped ears, low-set ears, hearing loss, choanal atresia, and tooth abnormalities. [link.springer.com]

Mirror Image Syndrome (Autoscopic Syndrome; Lukianowicz Phenomenon) 818 General: Patient's delusion that he or she is seeing a double of himself or herself; seen in patients with schizophrenia, epilepsy, migraine, and even depression; the "double" usually [dentisty.org]

Reynolds, Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation, American Journal of Medical Genetics, 31, 3, (701-703), (2005). [doi.org]

Reynolds, Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation, American Journal of Medical Genetics, 1988, 31, 3, 701 Wiley Online Library [onlinelibrary.wiley.com]

Ocular: Increased corneal thickness; wrinkled maculopathy; granular pigmentary changes of fundus; papilledema; hyperopic astigmatism; corneal opacities; retinal vascular tortuosity; visual field defects. [dentisty.org]