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Orofaciodigital syndrome 11(OFD11)

MedGen UID:
416694
Concept ID:
C2752048
Disease or Syndrome
Synonyms: Gabrielli syndrome; OFD syndrome 11; OFD11; OFDS 11; OFDS XI; Oral-facial-digital syndrome type 11; Oral-facial-digital syndrome with skeletal anomalies; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XI; Orofaciodigital syndrome XI
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Sporadic (HPO, OMIM)
not inherited (Orphanet)
 
OMIM®: 612913
Orphanet: ORPHA141000

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.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.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. [from GTR]

Additional description

From GHR
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.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.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.  https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome

Clinical features

Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Abnormality of the odontoid process
MedGen UID:
351218
Concept ID:
C1864794
Finding
Abnormality of the dens of the axis, which is also known as the odontoid process.
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrofaciodigital syndrome 11
Follow this link to review classifications for Orofaciodigital syndrome 11 in Orphanet.

Recent clinical studies

Etiology

Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. PMID: 25407461Free PMC Article
González MG, Castro MP, Nieto DV, Bouzán JC
J Plast Reconstr Aesthet Surg 2014 Mar;67(3):396-8. Epub 2013 Jul 22 doi: 10.1016/j.bjps.2013.06.044. PMID: 23886557
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Hum Mutat 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. PMID: 18546297
Orstavik KH, Tangsrud SE, Nordshus T, Finnanger AM, Hellum C, Gjessing E
J Med Genet 1992 Nov;29(11):827-30. PMID: 1453437Free PMC Article

Diagnosis

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR
Am J Med Genet A 2015 Sep;167A(9):2132-7. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.37092. PMID: 25846457Free PMC Article
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T
Hum Genet 2014 Mar;133(3):367-77. Epub 2013 Nov 1 doi: 10.1007/s00439-013-1385-1. PMID: 24178751
González MG, Castro MP, Nieto DV, Bouzán JC
J Plast Reconstr Aesthet Surg 2014 Mar;67(3):396-8. Epub 2013 Jul 22 doi: 10.1016/j.bjps.2013.06.044. PMID: 23886557
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772
Rösing B, Kempe A, Berg C, Kahl P, Knöpfle G, Gembruch U, Geipel A
Ultrasound Obstet Gynecol 2008 Apr;31(4):457-60. doi: 10.1002/uog.5285. PMID: 18383484

Prognosis

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR
Am J Med Genet A 2015 Sep;167A(9):2132-7. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.37092. PMID: 25846457Free PMC Article
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. PMID: 25407461Free PMC Article
Wang HL, Chiang FY, Tai CF, Tsai KB, Wang LF
World J Surg Oncol 2013 Sep 16;11:230. doi: 10.1186/1477-7819-11-230. PMID: 24040829Free PMC Article
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772
Lindeboom JA, Kroon FH, de Vires J, van den Akker HP
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003 Apr;95(4):458-62. doi: 10.1067/moe.2003.35. PMID: 12686930

Clinical prediction guides

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR
Am J Med Genet A 2015 Sep;167A(9):2132-7. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.37092. PMID: 25846457Free PMC Article
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. PMID: 25407461Free PMC Article
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. PMID: 19817772
Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E
J Craniofac Surg 2002 Mar;13(2):321-6. PMID: 12000897
Kamada K, Nagata Y, Yoneyama H, Numata K, Hashimoto K, Okada E, Tateno M, Araki M
J Nihon Univ Sch Dent 1983 Mar;25(1):11-26. PMID: 6575134

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