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orofaciodigital syndrome III
ICD-10 Codes
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Description
Oral-Facial-Digital Syndrome III (OFDS III) Description
Oral-facial-digital syndrome, type 3, also known as Sugarman syndrome, is a genetic disorder characterized by anomalies in the mouth, eyes, and digits. It is associated with severe intellectual deficit.
The distinctive facial features often associated with oral-facial-digital syndrome include:
- A split in the lip (a cleft lip)
- A wide nose with a bulbous tip
- Low-set ears
In addition to these physical characteristics, individuals with OFDS III may also experience anomalies of the mouth, such as an opening in the roof of the mouth (cleft palate), and extra, missing, or differently shaped teeth.
Furthermore, people with this condition may have abnormalities of the digits, including fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually long.
These physical anomalies can vary in severity and combination from person to person. The syndrome is a rare genetic disorder with a complex set of symptoms.
References:
- [6] Orofaciodigital syndrome III, also known as Sugarman syndrome, is a genetic disorder characterized by anomalies in the mouth, eyes, and digits.
- [7] Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a bulbous tip; low-set ears.
- [3] These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually long.
- [5] Disease Overview. Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
Additional Characteristics
- Low-set ears
- A split in the lip (a cleft lip)
- A wide nose with a bulbous tip
- An opening in the roof of the mouth (cleft palate)
- Extra, missing, or differently shaped teeth
- Fusion of certain fingers or toes (syndactyly)
- Digits that are shorter than usual (brachydactyly)
- Digits that are unusually long
Signs and Symptoms
Orofaciodigital syndrome (OFDS) type III is a rare genetic disorder characterized by various physical abnormalities. The signs and symptoms of OFDS type III can vary widely, but some common features include:
- Abnormalities in the oral cavity: Cleft tongue, cleft palate, extra teeth, or missing teeth are commonly reported manifestations.
- Facial features: Hypertelorism (increased distance between the eyes), facial asymmetry, and other abnormalities of the face may be present.
- Digits: Abnormalities such as fusion of fingers or toes, polydactyly (extra fingers or toes), or missing digits can occur.
According to [3], affected individuals may also have an opening in the roof of the mouth (a cleft palate). Another common feature is an abnormality of the head or neck, including bifid tongue and hypertelorism [4].
In addition to these physical abnormalities, OFDS type III is often associated with severe intellectual deficit. The syndrome can also affect other parts of the body, such as the limbs, with reported manifestations including short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones [7].
It's worth noting that the signs and symptoms of OFDS type III can vary widely among affected individuals, and not everyone will exhibit all of these features. However, these physical abnormalities are commonly associated with this rare genetic disorder.
References: [3] - Feb 1, 2010 — Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some ... [4] - Clinical features · Abnormality of head or neck. Bifid tongue · Abnormality of limbs. Postaxial foot polydactyly · Abnormality of the eye. Hypertelorism ... [7] - Oct 14, 2024 — Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. ORPHA ...
Additional Symptoms
- Bifid tongue
- Cleft palate
- Polydactyly (extra fingers or toes)
- Fusion of fingers or toes
- Abnormalities in the oral cavity
- Hypertelorism (increased distance between the eyes)
- Facial asymmetry
- Missing digits
- Short femoral neck
- Bilateral cervical ribs
- Abnormal vertebral bodies
- Gracile long bones
Diagnostic Tests
Diagnostic Methods for Orofaciodigital Syndrome III
Orofaciodigital syndrome III (OFD3) is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. Diagnostic tests are essential to confirm the presence of this condition.
- Direct Sequencing of OFD1: This test involves analyzing the OFD1 gene to detect any mutations or variations that may be associated with OF
Additional Diagnostic Tests
- Direct Sequencing of OFD1
- Histopathological examination of skin and mucous membranes
Treatment
Based on the provided context, it appears that there is limited information available on the specific drug treatment for Orofaciodigital Syndrome Type III (OFDIII). However, I can provide some general information on the condition and its management.
Management of OFDIII
According to search result [4], OFDIII is a rare genetic disorder characterized by various clinical features. The management of this condition depends on the specific symptoms and abnormalities present in each individual.
Surgical Treatment
Search result [5] mentions that reconstructive surgery may be an option for treating certain anomalies associated with OFDIII, such as cleft palate, tongue nodules, additional teeth, and accessory frenulae. Orthodontic treatment may also be necessary to address malocclusion issues.
Medical Management
While there is no specific mention of drug treatment in the provided context, it is likely that individuals with OFDIII may require medical management for associated conditions such as renal disease and seizures. However, this information is not explicitly stated in the search results.
Genetic Counseling
Search result [4] mentions genetic testing options available from US labs and around the world. Genetic counseling may be an essential part of managing OFDIII, especially for families with a history of the condition.
In summary, while there is limited specific information on drug treatment for Orofaciodigital Syndrome Type III (OFDIII), surgical treatment and medical management may be necessary to address associated anomalies and conditions. Genetic counseling is also an important aspect of managing this rare genetic disorder.
References:
[4] Clinical resource with information about Orofacial-digital syndrome III and its clinical features, available genetic tests from US and labs around the world. [5] December 3, 2023 - Orofaciodigital syndrome type 1 can be treated with reconstructive surgery or the affected parts of the body. Surgery of cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion. Routine treatment for patients with renal disease and seizures may also ...
Recommended Medications
- Limited specific information available
- Surgical treatment for certain anomalies
- Medical management for associated conditions such as renal disease and seizures
💊 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
Based on the provided context, it appears that differential diagnoses for orofaciodigital syndrome (OFDS) include other OFD syndromes and disorders, such as OFD2, 3, 4, 5, 6, 8, and 9. Additionally, familial cystic renal disease should also be considered in the differential diagnosis.
- Other OFD syndromes and disorders: These include OFD2, 3, 4, 5, 6, 8, and 9, which are all part of the same group of rare developmental disorders affecting the mouth, face, and digits [1].
- Familial cystic renal disease: This is another condition that should be considered in the differential diagnosis for OFDS [2].
It's worth noting that Meckel and Joubert syndromes should also be considered in the differential diagnosis [3]. However, it seems that orofaciodigital syndrome III does not have a specific mention in the provided context.
References: [1] - Context 5 [2] - Context 9 [3] - Context 9
Additional Differential Diagnoses
- OFD2
- OFD3
- OFD4
- OFD5
- OFD6
- OFD8
- OFD9
- Familial cystic renal disease
Additional Information
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- An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
- oboInOwl#hasExactSynonym
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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