CCFDN

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy

Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.

genetic conditions

References

Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L.Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a noveldevelopmental disorder in Gypsies maps to 18qter. Eur J Hum Genet. 1999Jul;7(5):560-6.
Kalaydjieva L, Chamova T. Congenital Cataracts, Facial Dysmorphism, andNeuropathy. 2010 Mar 2 [updated 2017 Apr 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK25565/
Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29;1:32. Review.
Mastroyianni SD, Garoufi A, Voudris K, Skardoutsou A, Stefanidis CJ, Katsarou E, Gooding R, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy(CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis. Eur J Pediatr.2007 Jul;166(7):747-9.
Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H,Gooding R, Kalaydjieva L. Ocular features of the congenital cataracts facialdysmorphism neuropathy syndrome. Ophthalmology. 2004 Jul;111(7):1415-23.
Navarro C, Teijeira S. Neuromuscular disorders in the Gypsy ethnic group. Ashort review. Acta Myol. 2003 May;22(1):11-4. Review.
Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, WillemsenMA. Congenital cataract facial dysmorphism neuropathy syndrome: a clinicallyrecognizable entity. Pediatr Neurol. 2005 Oct;33(4):277-9.
Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O,Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R,Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y,Kolarov G, Aneva L, Radeva O, Thomas PK. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol. 1999 Jun;45(6):742-50.
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK,Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V,Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J,Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partialdeficiency of the C-terminal-domain phosphatase of RNA polymerase II isassociated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9.

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