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695 Possible Causes for Mal de Meleda, Persistent Notochordal Canal, Small Optic Disc

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  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org] Other findings included posterior embryotoxon (69%), isolated corneal nerves (3%), sclerocornea (3%), deep iris crypts (10%), tortuous retinal vessels (58%), small optic nerves[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Optic Atrophy-Intellectual Disability Syndrome

    disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] de Meleda acrofacial dysostosis 1, Nager type , see Nager syndrome acromicric dysplasia acroosteolysis dominant type , see Hajdu-Cheney syndrome acroosteolysis with osteoporosis[mygenomics.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] de Meleda acrofacial dysostosis 1, Nager type, see Nager syndrome acromicric dysplasia acroosteolysis dominant type, see Hajdu-Cheney syndrome acroosteolysis with osteoporosis[mygenomics.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Palmoplantar Keratosis

    de Meleda (MDM), Gamborg Nielsen type, Nagashima type, and acral keratoderma. 1 Mal de Meleda, also referred to as erythrokeratodermia varibilis or keratosis palmoplantaris[jamanetwork.com] de Meleda and Olmsted syndrome.[ncbi.nlm.nih.gov] Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of mal de Meleda.[jamanetwork.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Diffuse Palmoplantar Keratoderma

    Here we present two cases of Mal de Meleda with unusual lip involvement.[e-ijd.org] Mal de Meleda [5] A synonym is keratosis extremitatum hereditaria trangrediens et progrediens. Mal de Meleda is an autosomal recessive disease.[emedicine.medscape.com] […] with scaly rash around the mouth and nose Lines of skin thickening occur the inner aspects of the forearms Fingers may be lost due to tight bands of skin around the fingers Mal-de[dermnetnz.org]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Papillon Lefevre Disease

    The syndrome is considered a variant of mal de Meleda, and is inherited as an autosomal recessive trait. Bibliography Paul-Henri Papillon, P.[whonamedit.com] It was first described in 1924 by two French physicians, Papillion and Lefevre. 2 Mal de Meleda with lip involvement: A report of two cases Nath, A.K. and Chaudhuri, S. and[ijdr.in] Other diseases with similar dermatologic features include localized epidermolytic palmoplantar keratoderma (Vörner), mal de Meleda, Howel-Evans syndrome, transgrediens et[rarediseases.info.nih.gov]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Autosomal Recessive Congenital Cataract 5

    Palmoplantar keratoderma-Mal de Meleda type. Indian J Dermatol Venereol Leprol 1994;60:359-61. 11. Pandhi D, Reddy BS. Mal de Meleda type of keratoderma.[e-ijd.org] Abstract : UNLABELLED: INTRODUCTION: Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission.[hal-riip.archives-ouvertes.fr] Ocular and dermatologic findings in two siblings with mal de Meleda. Retina 1999;19:247-50. 6.[e-ijd.org]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Howell-Evans Syndrome

    Hereditary keratoderma the condition runs in families, its AD or AR usually most severe (i.e. mal de Meleda, Papillon–Lefèvre) 10.[slideshare.net] The types of hereditary keratodermas include Unna-Thost, Bart-Pumphrey syndrome, Vorner’s, Mal de Meleda, Huriez Syndrome, Olmsted syndrome, Vohwinkel syndrome, PPK with sensorineural[footfiles.com] Mal de Meleda 4. Nagashima-type PPK 5. Vohwinkel syndrome 6. Bart-Pumphrey syndrome 7. Loricrin keratoderma 8. Clouston syndrome (Hidrotic ectodermal dysplasia) 9.[slideshare.net]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Optic Disc Drusen

    Optic disc drusen were significantly associated with small optic discs (p 0.001).[ncbi.nlm.nih.gov] In addition, she had NVD in both eyes with a small optic disc haemorrhage in the left eye. The retinas appeared normal in both eyes.[nature.com] disc. 10 Our previous study demonstrated a small optic disc as a risk factor for ODD, indicating that axonal distress can be a triggering factor. 10 Therefore, tumors involving[journals.lww.com]

    Missing: Mal de Meleda Persistent Notochordal Canal
  • Erythema Palmaris Hereditarium

    Mal de Meleda (MIM #248300, ARS Component B ) Syn.[plasticsurgerykey.com] Mal de Meleda is a rare autosomal recessive transgredient keratoderma named after the Croatian island of Meleda (Mljet) where it was first identified.[odermatol.com] The condition, or an analogous affection, seems to be endemic on the island of Meleda, off the coast of Dalmatia, and is known as the “mal de Meleda”; Hovorka, 1 viewing it[doctortreatments.com]

    Missing: Persistent Notochordal Canal Small Optic Disc

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