Oculodentodigital dysplasia oddd is a condition that affects the eyes, teeth, and fingers. A 6year old girl with oculodentodigital dysplasia, with progressive chronic angle closure glaucoma secondary to ciliary body cysts presented to our clinic. 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. Oculodentodigital dysplasia oddd is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations in cx43gja1. Cleft lip in oculodentodigital dysplasia suggests novel roles. Oculodentodigital dysplasia is a condition that affects many parts of the body. Diagnostic and surgical management of severe chronic angle closure glaucoma secondary to ciliary body cysts can be difficult to manage in a patient with oculodentodigital. Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Common features in people with this condition are small eyes microphthalmia and other eye abnormalities that can lead to vision loss. Oculodentodigital dysplasia oddd is a rare autosomal dominant disorder characterized by craniofacial anomalies involving the teeth and skull, as well as fusion of the digits, as the name would suggest.
Functional characterization of connexin43 mutations found in. Test oculodentodigital dysplasia oddd via the gja1. The salient and fairly constant features of odd appear to be 1 unique facial appearance, 2 microcornea with other inconstant ocular findings, 3 syndactyly of the hands with additional characteristic phalangeal aberrations, 4 diffuse skeletal dysplasia, 5 enamel dysplasia, and 6 trichosis. Oligosymptomatic patients are common and difficult to recognize, in particular if syndactyly is absent. The salient and fairly constant features of odd appear to be 1 unique facial appearance, 2 microcornea with other inconstant ocular findings, 3 syndactyly of the hands with additional characteristic phalangeal. Oculodentodigital dysplasia odd dysplasia syndrome may be inherited in an autosomal dominant or autosomal recessive manner. Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The syndrome is characterized by abnormal facial features, central nervous system involvement, syndactyly and clinodactyly of fourth and fifth fingers, dry and lusterless hair, generalized enamel hypoplasia and odontodysplasia.
Stats oculodentodigital dysplasia oculodentodigital. Other findings include iris atrophy, glaucoma, fine fragile hair, conductive deafness, ataxia, spastic paraplegia, bladder and bowel dysfunction. A physician can diagnose oculodentodigital syndrome on the basis of physical features. Oculodentodigital dysplasia oddd is a rare condition characterized by a typical facial appearance and variable. Functional characterization of connexin43 mutations found. Oculodentodigital dysplasia dominant genetic and rare. For language access assistance, contact the ncats public information officer. Oculodentodigital dysplasia is usually inherited as an autosomal dominant disorder 164200, which is also caused by mutation in the gja1 gene. High penetrance and marked intra and interfamilial phenotypic variability has been reported in oddd paznekas et al. Ocular manifestations in oculodentodigital dysplasia.
Diagnostic and surgical management of severe chronic angle closure glaucoma secondary to ciliary body cysts can be difficult to manage in a patient with oculodentodigital dysplasia. Oculodentodigital dysplasia doshi dc, limdi pk, parekh nv, gohil. Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder. This report illustrates the neurological manifestations by a pedigree of two oddd patients with spastic paraparesis, cerebral white matter. Frontometaphyseal dysplasia genetics home reference nih. A novel mutation in the gja1 gene in a family with. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. Joss sk, ghazawy s, tomkins s, ahmed m, bradbury j, sheridan e. Find out information about oculodentodigital dysplasia.
Oculodentodigital syndrome national foundation for. Pdf oculodentodigital dysplasia oddd mim 164200 is a rare autosomal dominant inherited. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and melnickneedles syndrome. Here, we characterize the effects of 8 of these mutations on cx43 function. Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically.
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes oculo, teeth dento, and fingers digital. In addition to classic dental features, oddd includes oral and craniofacial accessory symptoms such as characteristic facial appearance and cleft palate. Oculodentodigital dysplasia genetics home reference nih. Oculodentodigital syndrome odd syndrome is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Oculodentodigital dysplasia oddd is a rare autosomal dominant disorder caused by mutations in connexin 43 gene gja1. Dental management of oculodentodigital dysplasia journal of oral. Immunochemical studies have shown that most of the mutant proteins formed gap junction plaques at the sites of cellcell apposition. Oculodentodigital dysplasia oddd, also known as meyerschwickerath syndrome, is a. The typical clinical findings in this syndrome depend on the type of inheritance, with multiple organ systems being afflicted, namely the head, eyes, mouth cavity, skin, skeletal, and nervous system 1 patients with the autosomal dominant form of odd dysplasia are. Oculodentodigital dysplasia oculodentodigital dysplasia. Oculodentodigital dysplasia an overview sciencedirect. Joss sk, ghazawy s, tomkins s, ahmed m, bradbury j, sheridan e 2008. Nearly twothirds of these patients have hypothalamicpituitary.
If you have problems viewing pdf files, download the latest version of adobe reader. Oddd is characterized by pleiotropic malformations of the eyes, face, limbs, and dentition. Icd10 code of oculodentodigital dysplasia and icd9 code. Oculodentodigital dysplasia oddd is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities. The mutation of the gja1 gene, which codes cx43, causes oculodentodigital dysplasia oddd, commonly in an autosomal dominant manner with phenotypic variability. Oculodentodigital dysplasia nord national organization. Decreased levels of cx43 gap junctions result in ameloblast. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Neurological complications are thought to be occasional manifestations of the disorder. Causes of oddd syndrome oddd is a condition caused by a change in the connexin 43 gene gja1. The typical clinical findings in this syndrome depend on the type of inheritance, with multiple organ systems being afflicted, namely the head, eyes, mouth cavity, skin, skeletal, and nervous system 1. Rarely, autosomal recessive ar transmission also been reported.
Pdf oculodentodigital dysplasia oddd mim 164200 is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs. Test oculodentodigital dysplasia oddd via the gja1 gene. Oculodentodigital dysplasia symptoms, causes, diagnosis, and treatment information for oculodentodigital dysplasia oculodentodigital syndrome with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Oculodentodigital dysplasia genetic and rare diseases nih. Digital and dental malformation and short stature in a. Oculodentodigital dysplasia an overview sciencedirect topics. Oculodentodigital dysplasia genetic and rare diseases. Oculodentodigital syndrome an overview sciencedirect. Oculodentodigital syndrome, oculodentodigital dysplasia, and oculodentoosseous dysplasia oculodentodigital syndrome odd syndrome is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. Oculodentoosseous dysplasia oculodentodigital syndrome although reported as early as 1920 by l o h m a n n 153, meyerschwickerath et al.
Mutations in connexin proteins have been implicated in disorders of the skin, hearing, vision, and nervous systems. Jan 29, 2015 oculodentodigital dysplasia oddd, also known as meyerschwickerath syndrome, is a condition that occurs due to mutations in the connexin 43 cx43 gene or gap junction protein alpha1 gene located on chromosome 6q22q24 which leads to disruption of cx43mediated celltocell communication, resulting in disrupted morphological patterning during development and altered functioning of cells. Oculodentodigital dysplasia oddd mim 164200 is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Oculodentodigital dysplasia oddd is an autosomal dominant inherited disorder that affects many parts of the body, particularly the eye oculo, the teeth dento and the fingers digital. Typical signs include type iii syndactyly, microphtalmia, microdontia, and neurological disturbances. Abnormal development or growth, especially of cells explanation of oculodentodigital dysplasia. Palmoplantar keratosis in oculodentodigital dysplasia with. Oculodentodigital dysplasia oddd is a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, also called connexin 43 gja1. We report a 59yearold man having clinical symptoms and signs. Oculodentodigital dysplasia oddd mim 164200 is a rare disorder caused by mutations in the gap junction alpha 1 gja1 gene encoding for connexin 43 cx43. Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents with typical facial features, dental and ocular anomalies, and syndactyly. Dec 11, 2018 oculodentodigital dysplasia oddd is a condition that affects the eyes, teeth, and fingers. Neurologic manifestation occurs in approximately 30% of patients. Four new patients with oculodentodigital dysplasia odd have been examined.
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth. Typical features are syndactyly of ivv or iiiv fingers withwithout feet. Oculodentodigital dysplasia oddd, also known as meyerschwickerath syndrome, is a condition that occurs due to mutations in the connexin 43 cx43 gene or gap junction protein alpha1 gene located on chromosome 6q22q24 which leads to disruption of cx43mediated celltocell communication, resulting in disrupted morphological patterning during development and altered. Specific mutations in gja1, the gene encoding the gap junction protein connexin43 cx43, cause an autosomal dominant disorder called oculodentodigital dysplasia oddd. It has been believed that gene mutations causing truncation of the cx43 c. Cleft lip in oculodentodigital dysplasia suggests novel. Pdf neurological manifestations of the oculodentodigital. Pdf on jan 4, 2019, nisha agrawal and others published oculodentodigital. Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. Oculodentodigital dysplasia oddd is a syndrome characterized by malformations that involve the face, eyes, teeth, and bones and by neurological alterations. Oculodentodigital dysplasia is a genetic disorder that impacts the development of the face, eyes, limbs, and teeth 1.
Oculodentodigital dysplasia oddd is a rare autosomal dominant disorder characterized by craniofacial anomalies involving the teeth and skull, as well as fusion. Jul 28, 2014 oculodentodigital dysplasia oddd mim 164200 is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. The trip database provides clinical publications about. Patients show typical facial features including a narrow nose, hypoplastic alae nasi, short palpebral fissures, and epicanthal folds 92% of patients. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. Dysplasia oculodentodigitalis definition of dysplasia. It has been hypothesized that this process is governed by cx43. Coordinated differentiation of the ameloblast cell layer is essential to enamel matrix protein deposition and subsequent mineralization.
Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes oculo, teeth dento, and fingers digital. Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable. This disorder presents wide intra and interfamilial phenotypic variability and is. Oculodentodigital dysplasia presenting as spastic paraparesis. Ayman koutouby, javed habibullah, and faquih arif moinuddindepartment of pediatrics, al wasl maternity and pediatric hospital, department of health and medical services,government of dubai, united arab emirates.
Oculodentodigital syndrome an overview sciencedirect topics. The pattern of these features is important when a physician tries to make a formal diagnosis. Oculodentodigital dysplasia oddd is a highly penetrant autosomal dominant disorder, with variable expression 1. Individuals affected by this condition commonly have abnormalities of the eye small eyes, vision loss, teeth small teeth, weak enamel, early tooth loss, and skin web between fingers. Oculodentodigital dysplasia oddd is a autosomal dominant ad disorder.
Oculodentodigital dysplasia is a rare disorder characterized by webbing of the fourth and fifth fingers, an abnormally small transparent front part of the eye cornea, a slender nose, underdeveloped outer walls of each nostril, narrowing of the nostrils, defective enamel of the teeth and dry hair that grows slowly. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel. Neurological manifestations of the oculodentodigital. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia. Oculodentodigital dysplasia definition of oculodentodigital.
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