Medicine:Megalocornea-intellectual disability syndrome

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Megalocornea-intellectual disability syndrome
Other namesNeuhauser syndrome
SpecialtyMedical genetics
SymptomsOcular and intellect symptoms
Usual onsetBirth
CausesGenetic mutation
Frequencyvery rare, only 24 cases have been described in medical literature

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]


  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Megalocornea intellectual disability syndrome" (in en). 
  2. "OMIM Entry - % 249310 - MEGALOCORNEA-MENTAL RETARDATION SYNDROME" (in en-us). 
  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. 
  4. "OMIM Entry - % 249310 - MEGALOCORNEA-MENTAL RETARDATION SYNDROME" (in en-us). 
  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. et al. (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 et al. (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. PMID 25093588. Bibcode2014PLoSO...9j4163D.