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Related Experiment Video

Updated: Mar 21, 2026

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis

Published on: March 27, 2019

Oculodentodigital dysplasia.

Dharmil C Doshi¹, Purvi K Limdi, Nilesh V Parekh

¹Department of Ophthalmology, Sir T Hospital and Government Medical College, Bhavnagar, Gujarat, India.

Indian Journal of Ophthalmology

|May 6, 2016

Summary

Oculodentodigital dysplasia (ODD) is a rare genetic disorder affecting eyes, teeth, and digits. Early recognition of ODD symptoms is crucial for preventing severe health complications.

Area of Science:

Genetics
Rare Diseases
Developmental Biology

Background:

Oculodentodigital dysplasia (ODD) is a rare autosomal dominant disorder.
Mutations in the connexin 43 (or gap junction protein alpha-1) gene cause ODD.
ODD has a low incidence (1 in 10 million) and has been diagnosed in fewer than 300 individuals globally.

Observation:

ODD affects multiple body systems, notably eyes, teeth, and limbs.
Key features include facial dysmorphism, microphthalmia, syndactyly, and dental anomalies like enamel hypoplasia and anodontia.
Other manifestations include conductive deafness, brittle nails, sparse hair, and neurological issues.

Findings:

The abstract highlights a case of a 21-year-old male with progressive vision loss since childhood.

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This case underscores the importance of recognizing ODD symptoms.

Awareness is vital to prevent the syndrome from being overlooked.

Implications:

Early diagnosis of ODD can prevent irreversible conditions such as blindness.
Timely intervention can mitigate dental problems and learning disabilities associated with ODD.
Increased awareness and understanding of ODD are necessary for better patient outcomes.