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Orofaciodigital syndrome 8(OFD8)

MedGen UID:
208667
Concept ID:
C0796101
Disease or Syndrome
Synonyms: EDWARDS SYNDROME; OFD syndrome 8; OFD8; OFDS 8; OFDS VIII; Oral facial digital syndrome 8; Oral-facial-digital syndrome type 8; Oral-facial-digital syndrome with hypoplastic epiglottis; ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII; Orofaciodigital syndrome type 8
 
OMIM: 300484

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 GHR]

Clinical features

Abnormality of the palate
MedGen UID:
427798
Concept ID:
CN000169
Finding
Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Abnormality of calvarial morphology
MedGen UID:
446448
Concept ID:
CN002408
Finding
The presence of an `abnormal` (PATO:0000460) `shape` (PATO:0000052) of the`calvaria` (FMA:52800).
Increased number of teeth
MedGen UID:
506432
Concept ID:
CN116800
Finding
The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
Non-midline cleft lip
MedGen UID:
451693
Concept ID:
CN117231
Finding
Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Hearing abnormality
MedGen UID:
427820
Concept ID:
CN000340
Finding
An abnormality of the `sensory perception of sound` (GO:0007605).
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Abnormality of calvarial morphology
MedGen UID:
446448
Concept ID:
CN002408
Finding
The presence of an `abnormal` (PATO:0000460) `shape` (PATO:0000052) of the`calvaria` (FMA:52800).
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Recent clinical studies

Etiology

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L
Am J Med Genet A 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981. PMID: 19610098
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
McPherson E, Zaleski C, Mascola M
Am J Med Genet A 2006 Oct 1;140(19):2146-9. doi: 10.1002/ajmg.a.31406. PMID: 16906567
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
Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, Cagna DR
Am J Med Genet 1991 Mar 15;38(4):574-82. doi: 10.1002/ajmg.1320380416. PMID: 2063902

Diagnosis

Mathai SS, Rajeev A, Sahu S
Indian J Pediatr 2011 Aug;78(8):1023-4. Epub 2011 Mar 22 doi: 10.1007/s12098-011-0387-z. [Epub ahead of print] PMID: 21424801
Berger M, Rost I, Schmidt H
Clin Dysmorphol 2011 Apr;20(2):121-6. doi: 10.1097/MCD.0b013e328341679e. PMID: 21326092
McPherson E, Zaleski C, Mascola M
Am J Med Genet A 2006 Oct 1;140(19):2146-9. doi: 10.1002/ajmg.a.31406. PMID: 16906567
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
Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, Cagna DR
Am J Med Genet 1991 Mar 15;38(4):574-82. doi: 10.1002/ajmg.1320380416. PMID: 2063902

Prognosis

Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM
Hum Mol Genet 1997 Jul;6(7):1163-7. PMID: 9215688

Clinical prediction guides

McPherson E, Zaleski C, Mascola M
Am J Med Genet A 2006 Oct 1;140(19):2146-9. doi: 10.1002/ajmg.a.31406. PMID: 16906567
Mintz SM, Siegel MA, Seider PJ
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Mar;99(3):321-4. doi: 10.1016/j.tripleo.2004.08.008. PMID: 15716839
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM
Hum Mol Genet 1997 Jul;6(7):1163-7. PMID: 9215688
Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, Cagna DR
Am J Med Genet 1991 Mar 15;38(4):574-82. doi: 10.1002/ajmg.1320380416. PMID: 2063902

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