Megalocornea-intellectual disability syndrome

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Megalocornea-intellectual disability syndrome
Other namesNeuhauser syndrome
Specialty Medical genetics
Symptoms Ocular and intellect symptoms
Usual onsetBirth
DurationLifelong
Causes Genetic mutation
Preventionnone
Prognosis Medium
Frequencyvery rare, only 24 cases have been described in medical literature
Deaths-

Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. [1] According to OMIM, [2] only 24 cases have been described in medical literature. [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13]

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References

  1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Megalocornea intellectual disability syndrome". www.orpha.net. Retrieved 2022-06-13.
  2. ↑ "OMIM Entry - % 249310 - MEGALOCORNEA-MENTAL RETARDATION SYNDROME". omim.org. Retrieved 2022-06-13.
  3. ↑ Neuhäuser, G.; Kaveggia, E. G.; France, T. D.; Opitz, J. M. (1975-07-01). "Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited". Zeitschrift für Kinderheilkunde. 120 (1): 1–18. doi:10.1007/BF00443795. ISSN   0044-2917. PMID   1172332. S2CID   3185410.
  4. ↑ "OMIM Entry - % 249310 - MEGALOCORNEA-MENTAL RETARDATION SYNDROME". omim.org. Retrieved 2022-06-13.
  5. ↑ Del Giudice, E.; Sartorio, R.; Romano, A.; Carrozzo, R.; Andria, G. (1987-02-01). "Megalocornea and mental retardation syndrome: two new cases". American Journal of Medical Genetics. 26 (2): 417–420. doi:10.1002/ajmg.1320260220. ISSN   0148-7299. PMID   3812592.
  6. ↑ Raas-Rothschild, A.; Berkenstadt, M.; Goodman, R. M. (1988-01-01). "Megalocornea and mental retardation syndrome". American Journal of Medical Genetics. 29 (1): 221–223. doi:10.1002/ajmg.1320290129. ISSN   0148-7299. PMID   3344772.
  7. ↑ Grønbech-Jensen, M. (1989-04-01). "Megalocornea and mental retardation syndrome: a new case". American Journal of Medical Genetics. 32 (4): 468–469. doi:10.1002/ajmg.1320320406. ISSN   0148-7299. PMID   2672814.
  8. ↑ Kimura, M.; Kato, M.; Yoshino, K.; Ohtani, K.; Takeshita, K. (1991-01-01). "Megolocornea: mental retardation syndrome with delayed myelination". American Journal of Medical Genetics. 38 (1): 132–133. doi:10.1002/ajmg.1320380126. ISSN   0148-7299. PMID   2012124.
  9. ↑ Santolaya, J. M.; Grijalbo, A.; Delgado, A.; Erdozaín, G. (1992-06-01). "Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia". American Journal of Medical Genetics. 43 (3): 609–611. doi:10.1002/ajmg.1320430321. ISSN   0148-7299. PMID   1605258.
  10. ↑ Verloes, A.; Journel, H.; Elmer, C.; Misson, J. P.; Le Merrer, M.; Kaplan, J.; Van Maldergem, L.; Deconinck, H.; Meire, F. (1993-04-15). "Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types". American Journal of Medical Genetics. 46 (2): 132–137. doi:10.1002/ajmg.1320460206. ISSN   0148-7299. PMID   8484397.
  11. ↑ Antiñolo, G.; Rufo, M.; Borrego, S.; Morales, C. (1994-08-15). "Megalocornea-mental retardation syndrome: an additional case". American Journal of Medical Genetics. 52 (2): 196–197. doi:10.1002/ajmg.1320520214. ISSN   0148-7299. PMID   7802008.
  12. ↑ Sarkozy, Anna; Mingarelli, Rita; Brancati, Francesco; Dallapiccola, Bruno (2002-09-01). "Primary hypothyroidism and osteopenia associated with Neuhauser syndrome". American Journal of Medical Genetics. 111 (4): 412–414. doi:10.1002/ajmg.10577. ISSN   0148-7299. PMID   12210302.
  13. ↑ Davidson, Alice E.; Cheong, Sek-Shir; Hysi, Pirro G.; Venturini, Cristina; Plagnol, Vincent; Ruddle, Jonathan B.; Ali, Hala; Carnt, Nicole; Gardner, Jessica C.; Hassan, Hala; Gade, Else (2014). "Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness". PLOS ONE. 9 (8): e104163. doi: 10.1371/journal.pone.0104163 . ISSN   1932-6203. PMC   4122416 . PMID   25093588.
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