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Orofacial-digital syndrome III(OFD3)

MedGen UID:
96069
Concept ID:
C0406726
Disease or Syndrome
Synonyms: OFD syndrome 3; OFD3; OFDS 3; OFDS III; Oral-facial-digital syndrome type 3; ORAL-FACIAL-DIGITAL SYNDROME, TYPE III; Orofaciodigital syndrome 3; Orofaciodigital syndrome III; Sugarman syndrome
SNOMED CT: Orofacial-digital syndrome III (239030004); OFD III - Orofacial-digital syndrome III (239030004); Oral-facial-digital syndrome type 3 (239030004); Orofaciodigital syndrome type 3 (239030004); Sugarman syndrome (239030004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009793
OMIM®: 258850
Orphanet: ORPHA2752

Definition

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 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.

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.

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.

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.

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). [from MedlinePlus Genetics]

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Short sternum
MedGen UID:
108394
Concept ID:
C0575497
Finding
Decreased inferosuperior length of the sternum.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Teeth, supernumerary
MedGen UID:
21210
Concept ID:
C0040457
Anatomical Abnormality
The presence of one or more teeth additional to the normal number.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Tongue nodules
MedGen UID:
116122
Concept ID:
C0241438
Finding
Bifid tongue
MedGen UID:
82731
Concept ID:
C0266111
Congenital Abnormality
Tongue with a median apical indentation or fork.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Hyperconvex nail
MedGen UID:
488894
Concept ID:
C0423807
Finding
When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Orofacial-digital syndrome III
Follow this link to review classifications for Orofacial-digital syndrome III in Orphanet.

Recent clinical studies

Etiology

Jugessur A, Skare Ø, Lie RT, Wilcox AJ, Christensen K, Christiansen L, Nguyen TT, Murray JC, Gjessing HK
PLoS One 2012;7(6):e39240. Epub 2012 Jun 19 doi: 10.1371/journal.pone.0039240. PMID: 22723972Free PMC Article
Smith RA, Gardner-Medwin D
J Med Genet 1993 Oct;30(10):870-2. doi: 10.1136/jmg.30.10.870. PMID: 8230165Free PMC Article
Toriello HV
Am J Med Genet Suppl 1988;4:149-59. doi: 10.1002/ajmg.1320310515. PMID: 3144982

Diagnosis

Chitayat D, Stalker HJ, Azouz EM
Am J Med Genet 1992 Nov 15;44(5):567-72. doi: 10.1002/ajmg.1320440507. PMID: 1481810
Reich EW, Cox RP, Becker MH, Genieser NB, McCarthy JG, Converse JM
Birth Defects Orig Artic Ser 1978;14(6B):139-60. PMID: 728558

Therapy

Reich EW, Cox RP, Becker MH, Genieser NB, McCarthy JG, Converse JM
Birth Defects Orig Artic Ser 1978;14(6B):139-60. PMID: 728558

Prognosis

Young LW, Wilhelm LL, Zuppan CW, Clark R
Pediatr Radiol 2001 Jan;31(1):31-5. doi: 10.1007/s002470000361. PMID: 11200995

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