What is Oculodentodigital Dysplasia?

Preface
history
Causes and symptoms
GJA1 gene
Epidemiology
Case report
Diagnosis and treatment
References
References


Oculodentodigital dysplasia (ODDD) is a rare congenital malformation associated with eye, face, and limb abnormalities. ODDD follows an autosomal dominant inheritance and is caused by mutations in the GJA1 gene.

This multi-organ hereditary disorder has a variety of clinical manifestations. Some common features found in patients are microphthalmia, congenital cataracts, syndactyly, and premature tooth loss.

Some features of ocular dentate dysplasia can be seen from birth, while others appear as the patient grows older. Laboratory and genetic tests can be used to detect ocular dentate dysplasia.

Abnormalities in the extremities and complete finger dysplasia are symptoms of ocular dentate dysplasia. Image Credit: JorgeMRodrigues / Shutterstock

history

Roman is believed to have first described ODDD in 1920. In 1964, Gillespie described siblings with bilateral microphthalmia, an abnormally small nose, tooth abnormalities, phalanges of the 4th and 5th fingers, and defects of the toe phalanges. According to Gillespie, Meyer-Schwickerath et al named this condition ocular dentate dysplasia. Showed equivalent findings in two unrelated cases in 1957.

Rajic and DeVeber described in 1966 a three-generation family with several suffering members, but no male-to-male communication. In a new mutation for this disorder, Jones et al. (1975) I found evidence of my father’s age effect.

Causes and symptoms

ODDD is caused by a mutation in the GJA1 gene on chromosomes 6q22-q24 and is inherited in an autosomal dominant pattern. However, ODDD may be inherited in an autosomal recessive pattern.

The eyes, dentition, and fingers are involved in eyeball dentition syndrome, which leads to distinct facial expressions. Other eye abnormalities that can lead to microphthalmia and loss of vision are common in patients with this condition. Complete camptodactyly (syndactyly type III) of the 4th and 5th fingers is the most frequent finger deformity, but the 3rd finger can also be affected and associated camptodactyly is common. is.

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Affected people often have tooth abnormalities such as small or missing teeth, thin enamel, high caries, and early tooth loss.

Some affected people have neurological problems such as bladder or bowel control problems, ataxia, deafness, spasticity, and dysarthria. Craniofacial features such as narrow nose, hypoplastic arae with long nasal bridge, cleft lip and palate, and overgrowth of the mandible are also observed. Occasionally, ODDD patients may also present with brachydactyly, brittle hair, internal canthus, hearing loss, and intellectual disability.

Early tooth loss is common in this condition. Image Credit: Michaelnero / ShutterstockEarly tooth loss is common in ODDD. Image Credit: Michaelnero / Shutterstock

GJA1 gene

The GJA1 gene regulates the production of a protein known as connexin 43. This protein is a component of the gap junction, a channel that enables direct communication between cells. The Conexin 43 protein creates gap junctions in various tissues throughout the body. The Conexin 43 protein becomes dysfunctional when the GJA1 gene is mutated. Abnormal protein formation channels are often permanently blocked.

The connexin 43 protein cannot move to the cell surface due to mutations and must establish channels between cells. Intercellular communication is interrupted by defective channels that can interfere with normal cell development and specialization, the process of determining the shape and function of many different body parts. Signs and symptoms of ocular dentate dysplasia are caused by these developmental problems.

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Epidemiology

Approximately 300 patients worldwide have been diagnosed, with an incidence of 1 in 10 million. ODDD has the same number of effects on both men and women.

Case report

Chai et al. , (2019) introduced a 23-year-old woman with characteristic ODDD facial symptoms. Regular physical examination revealed that her hair and eyebrows were thin and fragile. On oral examination, the appearance of the teeth was early due to the microdontia. They underwent upper cant plasty, lateral cantotomy, and orthodontic treatment simultaneously on both sides of the third and fourth fingers due to the patient’s age, comorbidities, and personal facial condition.

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Physicians also applied the Rosenberg Self-esteem Scale (RSES) to assess patient self-esteem before surgery, 9 days after surgery (with sutures removed), and 1 month after surgery. According to the survey results, self-esteem was higher at the postoperative stage. The cosmetic results were also satisfactory for the patient.

Shinya et al. (2021) portrayed a 42-year-old carpenter with a history of migraine and bilateral syndactyly. And it manifested as numbness in his limbs and tremors in his feet, preventing him from working. Neurological examination showed spastic paraplegia and abnormal reflexes in all four limbs. ODDD was suspected based on his medical history and characteristic facial features such as small eye slits, a narrow mouth, and a pinched nose with a forward-tilted nostril.

A GJA1 gene mutation was discovered during genetic testing, confirming the diagnosis of ODDD. His spastic paraplegia was resistant to oral antispasmodics, but after starting intrathecal baclofen therapy, his symptoms improved significantly and he was able to return to work.

Diagnosis and treatment

Laboratory and genetic tests can be used to detect ocular dentate dysplasia. Hallermann-Streif Syndrome, ECE Syndrome, Orofacial Digital Syndrome Type II, and Keratitis Ichthyosis Hearing Syndrome are included in the differential diagnosis.

Interdisciplinary management is required. Complete eye, nerve, hearing, and oral examinations should be performed on a regular basis. Severe limb abnormalities may require orthopedic or orthopedic surgery.

The importance of early diagnosis of the condition in the prevention and treatment of various clinical symptoms cannot be exaggerated. Systemic examination and genetic counseling can help diagnose the condition and prevent worsening symptoms.

Genetic testing is often used to confirm the diagnosis of ODDD. Image Credit: Evgeniy Kalinovskiy / ShutterstockGenetic testing is often used to confirm the diagnosis of ODDD. Image Credit: Evgeniy Kalinovskiy / Shutterstock

References

  • Chai, N., Lang, Z., Wang, M. et al. (2020). Oculodentodigital dysplasia: Plastic treatment and self-esteem estimation. Eur J Plast Surg, 43, 657–660. https://doi.org/10.1007/s00238-019-01594-y
  • Attig, A. , Trabelsi, M. , Hizem, S. , Ben Jemaa, L. , Maazoul, F. , Chaouachi, S. , & Murd, R. (2016). Eye-tooth-digital dysplasia in a Tunisian family with the novel GJA1 mutation. Genetic counseling (Geneva, Switzerland), 27 (3), 433–439.
  • Eyeball dysplasia; ODDD. [Online] OMIM. Available at https://omim.org/entry/164200
  • Oculodentodigital dysplasia. [Online] NIH-GARD. Available at https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia
  • Oculodentodigital dysplasia. [Online] MedlinePlus. Available at https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia/

References

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