U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Orofaciodigital syndrome

MedGen UID:
14518
Concept ID:
C0029294
Disease or Syndrome
Synonyms: Oral-facial-digital syndromes; Orofaciodigital syndromes
SNOMED CT: Orofacial-digital syndrome (52868006); Oral-facial-digital syndrome (52868006); Orodigitofacial dysostosis (52868006)
 
Monarch Initiative: MONDO:0015375
OMIM® Phenotypic series: PS311200
Orphanet: ORPHA140997

Definition

Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.

The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.

Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.

Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.

Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).

Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Drury S, Williams H, Trump N, Boustred C; GOSGene, Lench N, Scott RH, Chitty LS
Prenat Diagn 2015 Oct;35(10):1010-7. Epub 2015 Sep 11 doi: 10.1002/pd.4675. PMID: 26275891
Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573

Recent clinical studies

Etiology

Belengeanu V, Marian D, Hosszu T, Ogodescu AS, Belengeanu AD, Samoilă C, Freiman P, Lile IE
Rom J Morphol Embryol 2019;60(2):697-706. PMID: 31658347
Kirk EP, Barlow-Stewart K, Selvanathan A, Josephi-Taylor S, Worgan L, Rajagopalan S, Cowley MJ, Gayevskiy V, Bittles A, Burnett L, Elakis G, Lo W, Buckley M, Colley A, Roscioli T
Genet Med 2019 Mar;21(3):608-612. Epub 2018 Jul 2 doi: 10.1038/s41436-018-0082-9. PMID: 29961766
Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755
Sattar S, Gleeson JG
Dev Med Child Neurol 2011 Sep;53(9):793-798. Epub 2011 Jun 17 doi: 10.1111/j.1469-8749.2011.04021.x. PMID: 21679365Free PMC Article
Bernstein J
Pediatr Nephrol 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576. PMID: 8398663

Diagnosis

Li SL, Li KY, Wang YQ
J Craniofac Surg 2022 Nov-Dec 01;33(8):e831-e834. Epub 2022 Aug 17 doi: 10.1097/SCS.0000000000008764. PMID: 36409858
Adamiok-Ostrowska A, Piekiełko-Witkowska A
Cells 2020 Apr 8;9(4) doi: 10.3390/cells9040907. PMID: 32276433Free PMC Article
Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755
Naiboglu B, Oysu C, Gokceer T
Ear Nose Throat J 2012 Jan;91(1):E8-9. doi: 10.1177/014556131209100115. PMID: 22278878
Lin AE, Doshi N, Flom L, Tenenholz B, Filkins KL
Am J Med Genet 1991 Jun 1;39(3):247-51. doi: 10.1002/ajmg.1320390303. PMID: 1867273

Therapy

Hinen HB, Gathings RM, Shuler M, Wine Lee L
Pediatr Dermatol 2018 Jan;35(1):e88-e89. Epub 2017 Dec 3 doi: 10.1111/pde.13350. PMID: 29205474
Rajamani M, Nagasubramanian V, Ayyavoo A, Raghupathy P, Dandapani R
Strabismus 2017 Mar;25(1):39-42. Epub 2017 Jan 31 doi: 10.1080/09273972.2016.1277768. PMID: 28140732

Prognosis

Adamiok-Ostrowska A, Piekiełko-Witkowska A
Cells 2020 Apr 8;9(4) doi: 10.3390/cells9040907. PMID: 32276433Free PMC Article
Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K
J Hum Genet 2019 Jan;64(1):3-9. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0532-x. PMID: 30401917
Minervini G, Romano A, Petruzzi M, Maio C, Serpico R, Di Stasio D, Lucchese A
J Biol Regul Homeost Agents 2018 Jan-Feb;32(2 Suppl. 1):127-130. PMID: 29460530
Tavil B, Korkmaz A, Bayhan T, Aytaç S, Unal S, Kuskonmaz B, Yigit S, Cetin M, Yurdakök M, Gumruk F
Blood Coagul Fibrinolysis 2016 Mar;27(2):163-8. doi: 10.1097/MBC.0000000000000403. PMID: 26829281
Lesca G, Fallet-Bianco C, Plauchu H, Vitrey D, Verloes A, Attia-Sobol J
Am J Med Genet A 2006 Apr 1;140(7):757-63. doi: 10.1002/ajmg.a.31144. PMID: 16502430

Clinical prediction guides

Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A
Ophthalmic Genet 2024 Feb;45(1):95-102. Epub 2023 May 29 doi: 10.1080/13816810.2023.2215332. PMID: 37246745
Hussain S, Nawaz S, Khan H, Acharya A, Schrauwen I, Ahmad W, Leal SM
Ann Hum Genet 2022 Nov;86(6):291-296. Epub 2022 Aug 30 doi: 10.1111/ahg.12462. PMID: 36039988Free PMC Article
Gangaram B, Devine WP, Slavotinek A
Eur J Med Genet 2022 Jun;65(6):104496. Epub 2022 Apr 6 doi: 10.1016/j.ejmg.2022.104496. PMID: 35398350Free PMC Article
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group
Orphanet J Rare Dis 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. PMID: 24884629Free PMC Article
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ
Hum Mutat 2013 Jan;34(1):237-47. Epub 2012 Oct 17 doi: 10.1002/humu.22224. PMID: 23033313Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...