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Oculodentodigital dysplasia(ODDD)

MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality
Synonyms: Oculodentodigital syndrome; ODD syndrome; ODDD
SNOMED CT: Curtius' syndrome I (38215007); Ectodermal dysplasia-ocular malformation syndrome (31291009); Oculodentodigital syndrome (38215007); Oculodentodigital dysplasia (38215007)
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).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): GJA1 (6q22.31)
 
Monarch Initiative: MONDO:0008111
OMIM®: 164200
Orphanet: ORPHA2710

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 MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia

Clinical features

From HPO
Neurogenic bladder
MedGen UID:
595
Concept ID:
C0005697
Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Cubitus valgus
MedGen UID:
490152
Concept ID:
C0158465
Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
3-4 toe syndactyly
MedGen UID:
371723
Concept ID:
C1834062
Finding
Syndactyly with fusion of toes three and four.
4-5 finger syndactyly
MedGen UID:
869305
Concept ID:
C4023731
Anatomical Abnormality
Syndactyly with fusion of fingers four and five.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
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- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Paraparesis
MedGen UID:
113150
Concept ID:
C0221166
Sign or Symptom
Weakness or partial paralysis in the lower limbs.
Tetraparesis
MedGen UID:
78731
Concept ID:
C0270790
Finding
Weakness of all four limbs.
Abnormal cerebral white matter morphology
MedGen UID:
181756
Concept ID:
C0948163
Pathologic Function
An abnormality of the cerebral white matter.
Hyperactive deep tendon reflexes
MedGen UID:
335355
Concept ID:
C1846176
Finding
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.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Vertebral hyperostosis
MedGen UID:
322334
Concept ID:
C1834057
Finding
Excessive growth of the bones of the vertebral bodies.
Joint contracture of the 5th finger
MedGen UID:
356345
Concept ID:
C1865702
Anatomical Abnormality
Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Premature loss of teeth
MedGen UID:
66678
Concept ID:
C0232513
Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
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.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Taurodontism
MedGen UID:
75596
Concept ID:
C0266039
Disease or Syndrome
Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Narrow nose
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Low hanging columella
MedGen UID:
344656
Concept ID:
C1856119
Finding
Columella extending inferior to the level of the nasal base, when viewed from the side.
Broad alveolar ridges
MedGen UID:
347470
Concept ID:
C1857500
Finding
Selective tooth agenesis
MedGen UID:
370882
Concept ID:
C1970308
Congenital Abnormality
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
Cleft 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).
Narrow nasal bridge
MedGen UID:
1641596
Concept ID:
C4551564
Finding
Decreased width of the bony bridge of the nose.
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the lustre (shine or gleam) of normal hair.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Slow-growing hair
MedGen UID:
371309
Concept ID:
C1832348
Finding
Hair whose growth is slower than normal.
Fragile nails
MedGen UID:
341661
Concept ID:
C1856963
Finding
Nails that easily break.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea 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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculodentodigital dysplasia
Follow this link to review classifications for Oculodentodigital dysplasia in Orphanet.

Professional guidelines

PubMed

Walrave L, Vinken M, Leybaert L, Smolders I
Biomolecules 2020 Nov 20;10(11) doi: 10.3390/biom10111578. PMID: 33233647Free PMC Article

Recent clinical studies

Etiology

Li X, Xiao X, Li S, Ouyang J, Sun W, Liu X, Zhang Q
Mol Vis 2021;27:309-322. Epub 2021 May 13 PMID: 34035645Free PMC Article
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Harting I, Karch S, Moog U, Seitz A, Pouwels PJW, Wolf NI
AJNR Am J Neuroradiol 2019 May;40(5):903-907. Epub 2019 May 2 doi: 10.3174/ajnr.A6051. PMID: 31048294Free PMC Article
Rall K, Eisenbeis S, Henninger V, Henes M, Wallwiener D, Bonin M, Brucker S
J Pediatr Adolesc Gynecol 2015 Oct;28(5):362-8. Epub 2014 Nov 11 doi: 10.1016/j.jpag.2014.07.019. PMID: 26148785
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

Diagnosis

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Taşdelen E, Durmaz CD, Karabulut HG
Cytogenet Genome Res 2018;154(4):181-186. Epub 2018 Jun 15 doi: 10.1159/000489000. PMID: 29902798
Delmar M, Laird DW, Naus CC, Nielsen MS, Verselis VK, White TW
Cold Spring Harb Perspect Biol 2018 Sep 4;10(9) doi: 10.1101/cshperspect.a029348. PMID: 28778872Free PMC Article
Doshi DC, Limdi PK, Parekh NV, Gohil NR
Indian J Ophthalmol 2016 Mar;64(3):227-30. doi: 10.4103/0301-4738.180191. PMID: 27146935Free 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

Therapy

Shinya A, Takahashi M, Sato N, Nishida Y, Inaba A, Inaji M, Yokota T, Orimo S
Intern Med 2021 Jul 15;60(14):2301-2305. Epub 2021 Feb 22 doi: 10.2169/internalmedicine.6145-20. PMID: 33612672Free PMC Article
Jensen ED
BMJ Case Rep 2021 Jan 11;14(1) doi: 10.1136/bcr-2020-238079. PMID: 33431460Free PMC Article
Walrave L, Vinken M, Leybaert L, Smolders I
Biomolecules 2020 Nov 20;10(11) doi: 10.3390/biom10111578. PMID: 33233647Free PMC Article
Pace NP, Benoit V, Agius D, Grima MA, Parascandalo R, Hilbert P, Borg I
Mol Genet Genomic Med 2019 Sep;7(9):e882. Epub 2019 Jul 25 doi: 10.1002/mgg3.882. PMID: 31347275Free PMC Article
Wu JC, Cunningham BB
Cutis 2008 Jan;81(1):22-4. PMID: 18306842

Prognosis

Li X, Xiao X, Li S, Ouyang J, Sun W, Liu X, Zhang Q
Mol Vis 2021;27:309-322. Epub 2021 May 13 PMID: 34035645Free PMC Article
Wang Z, Sun L, Wang P, Chen C, Zhang A, Wang W, Ding X
Ophthalmic Genet 2019 Feb;40(1):54-59. Epub 2019 Feb 15 doi: 10.1080/13816810.2019.1571616. PMID: 30767687
Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW
Mol Biol Cell 2016 Jul 15;27(14):2172-85. Epub 2016 May 25 doi: 10.1091/mbc.E16-01-0062. PMID: 27226478Free 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
Laird DW
J Biol Chem 2008 Feb 8;283(6):2997-3001. Epub 2007 Dec 18 doi: 10.1074/jbc.R700041200. PMID: 18089569

Clinical prediction guides

Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW
Mol Biol Cell 2016 Jul 15;27(14):2172-85. Epub 2016 May 25 doi: 10.1091/mbc.E16-01-0062. PMID: 27226478Free PMC Article
Batra N, Kar R, Jiang JX
Biochim Biophys Acta 2012 Aug;1818(8):1909-18. Epub 2011 Sep 22 doi: 10.1016/j.bbamem.2011.09.018. PMID: 21963408Free 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
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
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW
Hum Mutat 2009 May;30(5):724-33. doi: 10.1002/humu.20958. PMID: 19338053

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