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Oculodentodigital dysplasia(ODDD)

MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality
Synonyms: oculo-dento-osseous dysplasia; Oculodentodigital syndrome; ODD syndrome; ODDD; osseous-oculo-dental dysplasia
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Ectodermal dysplasia-ocular malformation syndrome (38215007); Curtius' syndrome I (38215007); Ectodermal dysplasia-ocular malformation syndrome (31291009); Oculodentodigital syndrome (38215007); Oculodentodigital dysplasia (38215007)
 
Gene: GJA1
Cytogenetic location: 6q22.31
OMIM: 109400; 164200; 206700

Definition

Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant. [from OMIM]

Additional description

From GHR
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.  http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia

Clinical features

Neoplasm
MedGen UID:
227011
Concept ID:
C1306459
Finding
A malignant tumor at the original site of growth.
Basal cell carcinoma
MedGen UID:
505327
Concept ID:
CN002427
Finding
The presence of a `basal cell carcinoma` (MPATH:234) of the `skin` (FMA:7163).
Medulloblastoma
MedGen UID:
505388
Concept ID:
CN002609
Finding
A rapidly growing embryonic tumor arising in the posterior part of the `cerebellar vermis` (FMA:76928) and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the `cerebellum` (FMA:67944) in adults.
Cardiac rhabdomyoma
MedGen UID:
506303
Concept ID:
CN008589
Finding
A benign tumor of cardiac striated muscle.
Keratocystic odontogenic tumor
MedGen UID:
430026
Concept ID:
CN009429
Finding
A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
Cardiac fibroma
MedGen UID:
506389
Concept ID:
CN009443
Finding
A `fibroma` (MPATH:407) of the `heart` (FMA:7088).
Ovarian fibroma
MedGen UID:
506390
Concept ID:
CN009444
Finding
The presence of a `fibroma` (MPATH:407) of the `ovary` (FMA:7209).
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Ovarian fibroma
MedGen UID:
506390
Concept ID:
CN009444
Finding
The presence of a `fibroma` (MPATH:407) of the `ovary` (FMA:7209).
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Underdeveloped nasal alae
MedGen UID:
507330
Concept ID:
CN000403
Finding
Thinned, deficient, or excessively arched `ala nasi` (FMA:59519).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Narrow nasal bridge
MedGen UID:
504444
Concept ID:
CN000417
Finding
Decreased width of the bony bridge of the nose.
Abnormality of the neck
MedGen UID:
424994
Concept ID:
CN000433
Finding
An abnormality of the `neck` (FMA:7155).
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
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.
Taurodontia
MedGen UID:
504554
Concept ID:
CN000639
Finding
`Increased volume` (PATO:0000595) of `dental pulp` (FMA:55631) of `permanent molar` (FMA:84207).
Orbital cyst
MedGen UID:
504746
Concept ID:
CN001076
Finding
Presence of a cyst in the region of the orbita. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the `dental enamel` (FMA:55629).
Keratocystic odontogenic tumor
MedGen UID:
430026
Concept ID:
CN009429
Finding
A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Microcornea
MedGen UID:
504458
Concept ID:
CN000450
Finding
A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Aniridia
MedGen UID:
504480
Concept ID:
CN000492
Finding
Congenital absence of the `iris` (FMA:58235).
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A `coloboma` (HP:0000589) of the `iris` (FMA:58235).
Aplasia/Hypoplasia of the iris
MedGen UID:
429187
Concept ID:
CN007080
Finding
Absence or underdevelopment of the `iris` (FMA:58235).
Hearing abnormality
MedGen UID:
427820
Concept ID:
CN000340
Finding
An abnormality of the `sensory perception of sound` (GO:0007605).
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605).
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills.
Cerebellar hypoplasia
MedGen UID:
504799
Concept ID:
CN001210
Finding
Underdevelopment of the `cerebellum` (FMA:67944).
Basal ganglia calcification
MedGen UID:
505119
Concept ID:
CN001935
Finding
The presence of `calcium deposition` (MPATH:36) affecting one or more structures of the `basal ganglia` (FMA:84013).
Tetraparesis
MedGen UID:
505179
Concept ID:
CN002063
Finding
Weakness of all four limbs.
Paraparesis
MedGen UID:
505223
Concept ID:
CN002166
Finding
Weakness or partial paralysis in the lower limbs.
Spina bifida
MedGen UID:
505230
Concept ID:
CN002193
Finding
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Abnormality of the cerebral white matter
MedGen UID:
425101
Concept ID:
CN002271
Finding
An abnormality of the `cerebral white matter` (FMA:241998).
Medulloblastoma
MedGen UID:
505388
Concept ID:
CN002609
Finding
A rapidly growing embryonic tumor arising in the posterior part of the `cerebellar vermis` (FMA:76928) and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the `cerebellum` (FMA:67944) in adults.
Calcification of falx cerebri
MedGen UID:
505810
Concept ID:
CN004841
Finding
The presence of `calcium deposition` (MPATH:36) in the `falx cerebri` (FMA:83967).
Abnormality of movement
MedGen UID:
506445
Concept ID:
CN116921
Finding
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Abnormality of the sternum
MedGen UID:
446376
Concept ID:
CN000720
Finding
An anomaly of the `sternum` (FMA:7485), also known as the breastbone.
Short ribs
MedGen UID:
500894
Concept ID:
CN000727
Finding
Reduced rib length.
Bifid ribs
MedGen UID:
504644
Concept ID:
CN000837
Finding
A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
Sprengel anomaly
MedGen UID:
504649
Concept ID:
CN000854
Finding
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
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.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Basal ganglia calcification
MedGen UID:
505119
Concept ID:
CN001935
Finding
The presence of `calcium deposition` (MPATH:36) affecting one or more structures of the `basal ganglia` (FMA:84013).
Spina bifida
MedGen UID:
505230
Concept ID:
CN002193
Finding
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Kyphoscoliosis
MedGen UID:
425109
Concept ID:
CN002496
Finding
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Hemivertebrae
MedGen UID:
505412
Concept ID:
CN002658
Finding
Absence of one half of the vertebral body.
Vertebral fusion
MedGen UID:
505419
Concept ID:
CN002669
Finding
A developmental defect leading to the union of two adjacent vertebrae.
Cubitus valgus
MedGen UID:
428322
Concept ID:
CN002685
Finding
Abnormal positioning in which the elbows are turned out.
Calcification of falx cerebri
MedGen UID:
505810
Concept ID:
CN004841
Finding
The presence of `calcium deposition` (MPATH:36) in the `falx cerebri` (FMA:83967).
Supernumerary ribs
MedGen UID:
505854
Concept ID:
CN005131
Finding
The presence of more than 12 rib pairs.
Vertebral wedging
MedGen UID:
506223
Concept ID:
CN007410
Finding
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
4-5 finger syndactyly
MedGen UID:
430046
Concept ID:
CN009531
Finding
`Syndactyly` (HP:0001159) with fusion of fingers four and five.
Sacrococcygeal pilonidal abnormality
MedGen UID:
426770
Concept ID:
CN009593
Finding
The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.
Down-sloping shoulders
MedGen UID:
452075
Concept ID:
CN117762
Finding
Low set, steeply sloping shoulders.
Melanocytic nevus
MedGen UID:
504679
Concept ID:
CN000931
Finding
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Milia
MedGen UID:
504701
Concept ID:
CN000991
Finding
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Basal cell carcinoma
MedGen UID:
505327
Concept ID:
CN002427
Finding
The presence of a `basal cell carcinoma` (MPATH:234) of the `skin` (FMA:7163).
Sparse hair
MedGen UID:
501034
Concept ID:
CN007096
Finding
Reduced density of `hairs` (FMA:53667).
Skin tags
MedGen UID:
506387
Concept ID:
CN009435
Finding
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Abnormality of the pulmonary artery
MedGen UID:
428461
Concept ID:
CN003909
Finding
An abnormality of the `pulmonary artery` (FMA:66326).
Cardiac rhabdomyoma
MedGen UID:
506303
Concept ID:
CN008589
Finding
A benign tumor of cardiac striated muscle.
Cardiac fibroma
MedGen UID:
506389
Concept ID:
CN009443
Finding
A `fibroma` (MPATH:407) of the `heart` (FMA:7088).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGOculodentodigital dysplasia

Recent clinical studies

Etiology

Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, Oishi S
J Hand Surg Am 2011 Nov;36(11):1816-21. doi: 10.1016/j.jhsa.2011.08.026. PMID: 22036282
Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z
J Oral Sci 2010 Jun;52(2):337-42. PMID: 20587963
Himi M, Fujimaki T, Yokoyama T, Fujiki K, Takizawa T, Murakami A
Jpn J Ophthalmol 2009 Sep;53(5):541-5. Epub 2009 Oct 22 doi: 10.1007/s10384-009-0711-6. [Epub ahead of print] PMID: 19847613
Feller L, Wood NH, Sluiter MD, Noffke C, Raubenheimer EJ, Lemmer J, van Rensburg EJ
Am J Med Genet A 2008 May 15;146A(10):1350-3. doi: 10.1002/ajmg.a.32272. PMID: 18412120
Vasconcellos JP, Melo MB, Schimiti RB, Bressanim NC, Costa FF, Costa VP
Arch Ophthalmol 2005 Oct;123(10):1422-6. doi: 10.1001/archopht.123.10.1422. PMID: 16219735

Diagnosis

Nortjé CJ
SADJ 2014 Mar;69(2):76. PMID: 24974522
Amano K, Ishiguchi M, Aikawa T, Kimata M, Kishi N, Fujimaki T, Murakami A, Kogo M
J Dent Res 2012 Jul;91(7 Suppl):38S-44S. doi: 10.1177/0022034512447952. PMID: 22699666
Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, Oishi S
J Hand Surg Am 2011 Nov;36(11):1816-21. doi: 10.1016/j.jhsa.2011.08.026. PMID: 22036282
Gabriel LA, Sachdeva R, Marcotty A, Rockwood EJ, Traboulsi EI
Arch Ophthalmol 2011 Jun;129(6):781-4. doi: 10.1001/archophthalmol.2011.113. PMID: 21670345
Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z
J Oral Sci 2010 Jun;52(2):337-42. PMID: 20587963

Therapy

Wu JC, Cunningham BB
Cutis 2008 Jan;81(1):22-4. PMID: 18306842

Prognosis

Shao Q, Liu Q, Lorentz R, Gong XQ, Bai D, Shaw GS, Laird DW
Mol Biol Cell 2012 Sep;23(17):3312-21. Epub 2012 Jul 18 doi: 10.1091/mbc.E12-02-0128. [Epub ahead of print] PMID: 22809623Free PMC Article
Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, Oishi S
J Hand Surg Am 2011 Nov;36(11):1816-21. doi: 10.1016/j.jhsa.2011.08.026. PMID: 22036282
Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z
J Oral Sci 2010 Jun;52(2):337-42. PMID: 20587963
Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE
Eye (Lond) 2009 Mar;23(3):549-55. Epub 2008 Apr 18 doi: 10.1038/eye.2008.77. [Epub ahead of print] PMID: 18425059
Amador C, Mathews AM, Del Carmen Montoya M, Laughridge ME, Everman DB, Holden KR
J Child Neurol 2008 Aug;23(8):901-5. doi: 10.1177/0883073808317730. PMID: 18660473

Clinical prediction guides

Shao Q, Liu Q, Lorentz R, Gong XQ, Bai D, Shaw GS, Laird DW
Mol Biol Cell 2012 Sep;23(17):3312-21. Epub 2012 Jul 18 doi: 10.1091/mbc.E12-02-0128. [Epub ahead of print] PMID: 22809623Free PMC Article
Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, Oishi S
J Hand Surg Am 2011 Nov;36(11):1816-21. doi: 10.1016/j.jhsa.2011.08.026. PMID: 22036282
Gregory M, Kahiri CN, Barr KJ, Smith CE, Hermo L, Cyr DG, Kidder GM
Int J Androl 2011 Dec;34(6 Pt 2):e630-41. Epub 2011 Oct 18 doi: 10.1111/j.1365-2605.2011.01224.x. [Epub ahead of print] PMID: 22004529
Churko JM, Chan J, Shao Q, Laird DW
J Invest Dermatol 2011 Nov;131(11):2197-204. Epub 2011 Jun 30 doi: 10.1038/jid.2011.183. [Epub ahead of print] PMID: 21716323
Gabriel LA, Sachdeva R, Marcotty A, Rockwood EJ, Traboulsi EI
Arch Ophthalmol 2011 Jun;129(6):781-4. doi: 10.1001/archophthalmol.2011.113. PMID: 21670345

Recent systematic reviews

Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F
J Neurol 2002 May;249(5):584-95. doi: 10.1007/s004150200068. PMID: 12021949

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