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oculodentodigital dysplasia
ICD-10 Codes
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Description
Oculodentodigital Dysplasia (ODDD): A Rare Congenital Malformation
Oculodentodigital dysplasia, also known as ODDD, is a rare congenital malformation syndrome that affects multiple parts of the body. The condition is characterized by abnormalities in the eyes, face, teeth, and limbs.
Key Features:
- Eye Abnormalities: Microcornea (small transparent part of the eye) and other eye-related issues are common in individuals with ODDD [1][7].
- Facial Anomalies: A typical facial appearance is often associated with ODDD, which may include features such as a small nose, underdeveloped jaw, and other craniofacial abnormalities [3][8].
- Teeth and Dental Issues: Teeth abnormalities are a hallmark of ODDD, including issues such as small teeth, missing teeth, or teeth that are abnormally shaped [5][6].
- Limbs Abnormalities: Webbing of the fourth and fifth fingers is a common feature in individuals with ODDD [2].
Causes and Genetics:
Oculodentodigital dysplasia is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition. The condition is caused by mutations in the connexin 43 gene [4].
Additional Characteristics
- Missing teeth
- Small teeth
- Small nose
- Microcornea (small transparent part of the eye)
- Eye-related issues
- Underdeveloped jaw
- Craniofacial abnormalities
- Teeth abnormalities
- Abnormally shaped teeth
- Webbing of the fourth and fifth fingers
Signs and Symptoms
Major Signs and Symptoms of Oculodentodigital Dysplasia
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder characterized by various physical and neurological symptoms. The condition affects multiple systems in the body, including the eyes, teeth, fingers, and nervous system.
- Eye Abnormalities: One of the most severe effects of ODDD is on the eyes. Common features include:
- Microphthalmia (small eye) [1][4][5]
- Congenital cataract (cloudy lens in the eye at birth)
- Vision loss due to various eye abnormalities
- Finger Abnormalities: Affected individuals often have:
- Webbing of the fourth and fifth fingers [1]
- Short middle phalanx (longest bone) of the 5th finger [3][4]
- Syndactyly (webbed or fused fingers) between the 4th and 5th fingers [3][6]
- Dental Abnormalities: ODDD can also affect the teeth, leading to:
- Early tooth loss
- Enamel hypoplasia (thin or defective enamel on the teeth)
- Anodontia (absence of one or more teeth) [6]
- Neurological Symptoms: Frequent neurological manifestations include:
- Dysarthria (speech difficulties)
- Neurogenic bladder disturbances
- Spastic paraparesis (weakness and stiffness in the legs)
- Ataxia (loss of coordination and balance)
- Anterior tibial muscle weakness [2]
- Hearing loss
- Bladder and bowel dysfunction [8]
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8
Additional Symptoms
- Congenital cataract
- Anodontia
- Hearing loss
- Spastic paraparesis
- Microphthalmia
- Webbing of the fourth and fifth fingers
- Short middle phalanx (longest bone) of the 5th finger
- Syndactyly between the 4th and 5th fingers
- Early tooth loss
- Enamel hypoplasia
- Neurogenic bladder disturbances
- Anterior tibial muscle weakness
- Bladder and bowel dysfunction
- ataxia
- loss of vision
- dysarthria
Diagnostic Tests
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder that affects multiple parts of the body, including the eyes, teeth, and skin. Diagnostic tests for ODDD are crucial in confirming the diagnosis and ruling out other conditions.
Diagnostic Tests
According to various sources [1][2], the diagnostic tests for oculodentodigital dysplasia include:
- Clinical examination: A thorough physical examination by a physician is essential in diagnosing ODDD. The examination includes evaluation of facial dysmorphism, digital anomalies, and other physical features associated with the condition [3].
- Genetic testing: Genetic testing can be used to confirm the diagnosis of ODDD. This test involves analyzing the GJA1 gene, which is responsible for the condition [4][5].
- Radiological evaluation: Radiological examination may also be performed to evaluate any skeletal or dental abnormalities associated with ODDD [6].
Other Diagnostic Methods
In addition to these tests, other diagnostic methods such as ophthalmological and dental examinations may also be performed to confirm the diagnosis of ODDD.
References
[1] Quick Guide to Tests and CPT Codes. (2024). Oculodentodigital Dysplasia Testing (GJA1) ... Blood. Saliva. Buccal. Cultured Cells. Extracted DNA ...
[2] Careful phenotype evaluation of facial dysmorphism and digital anomalies, ophthalmological and dental examination, and ...
[3] Feb 1, 2009 — Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), ...
[4] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of ...
[5] by DC Doshi · 2016 · Cited by 26 — After summing up the clinical examination, radiological evaluation and dental examination, a diagnosis of ODDD was made. Genetic testing was offered but ...
Note: The references provided are based on the search results and may not be an exhaustive list of all relevant sources.
Additional Diagnostic Tests
- Genetic testing
- Clinical examination
- Radiological evaluation
Treatment
Treatment Options for Oculodentodigital Dysplasia
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder that affects multiple systems in the body, including the eyes, teeth, and fingers. While there is no specific treatment for this condition, various drug treatments have been explored to manage its symptoms.
Anti-glaucoma Treatment Patients with ODDD who are at risk of blindness due to glaucoma should receive anti-glaucoma treatment [2]. This can help prevent vision loss and improve quality of life.
Intrathecal Baclofen Therapy (ITB) Second, ITB therapy has been used as a satisfactory and sustainable treatment for spastic paraplegia in ODDD patients [3]. This therapy involves the administration of baclofen directly into the spinal cord to reduce muscle spasms and improve mobility.
Dental Treatment The primary goals of dental treatment in patients with ODDD should be to correct the current oral condition and prevent further tooth decay or other complications [7]. Regular dental check-ups and good oral hygiene practices are essential for managing this aspect of the condition.
While these drug treatments can help manage symptoms, it's essential to note that there is currently no specific treatment for oculodentodigital dysplasia. However, by addressing individual symptoms and complications, patients can improve their quality of life and manage the condition more effectively.
References:
[1] Not applicable (this information was not provided in the search results)
[2] Context #2
[3] Context #3
[7] Context #7
Recommended Medications
- anti-glaucoma treatment
- Intrathecal Baclofen Therapy (ITB)
- dental treatment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder that affects multiple parts of the body, including the eyes, teeth, and fingers. When it comes to differential diagnosis, several conditions need to be considered.
- Hallermann–Streiff syndrome: This condition shares some similarities with ODDD, such as sparse hair growth, brittle nails, and unusual curvature of the fingers [1].
- Orofacial digital syndrome Type II: Another condition that needs to be ruled out in differential diagnosis is orofacial digital syndrome Type II, which can present with similar physical features [2].
- Ectrodactyly ectodermal dysplasia clefting (EEC): EEC is a rare genetic disorder that affects the development of the skin, hair, teeth, and nails, and may be considered in differential diagnosis for ODDD [3].
According to Table 3 by KD Hindu (2023), other conditions that need to be ruled out in differential diagnosis include:
- Other ectodermal dysplasias: These are a group of rare genetic disorders that affect the development of the skin, hair, teeth, and nails.
- Osteogenesis imperfecta: A condition characterized by fragile bones and often associated with other physical features.
It's essential to note that diagnosing ODDD requires a comprehensive clinical examination and may be confirmed through genetic testing [4].
References: [1] Context 1 [2] Context 2 [3] Context 2 [4] Context 4
Additional Differential Diagnoses
- Kohlschutter-Tonz syndrome
- syndactyly type 3
- Other ectodermal dysplasias
- Orofacial digital syndrome Type II
- Ectrodactyly ectodermal dysplasia clefting (EEC)
- osteogenesis imperfecta
- Hallermann-Streiff syndrome
Additional Information
- relatedICD
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- IAO_0000115
- A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
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