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orofaciodigital syndrome IV
ICD-10 Codes
Related ICD-10:
Description
Orofaciodigital syndrome IV (OFD4) is a rare genetic disorder that affects the development of the mouth, facial features, and digits. The clinical features of OFD4 include:
- Abnormalities of the oral cavity, such as a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue [3][4].
- Extra, missing, or defective teeth [1][2].
- An opening in the roof of the mouth (a cleft palate) [1][2].
- Polydactyly (extra fingers or toes) [7][9].
- Mesomelic limb shortness associated with tibial hypoplasia [7].
According to medical literature, OFD4 is caused by a homozygous or compound heterozygous mutation in the TCTN3 gene on chromosome 10q24 [5]. The syndrome is characterized by a range of symptoms that can vary in severity and presentation.
It's worth noting that OFD4 is one of several related conditions that make up the broader category of orofaciodigital syndromes, which affect between 1 in 50,000 to 250,000 newborns [3].
Additional Characteristics
- Polydactyly (extra fingers or toes)
- Abnormalities of the oral cavity
- Extra, missing, or defective teeth
- An opening in the roof of the mouth (a cleft palate)
- Mesomelic limb shortness associated with tibial hypoplasia
Signs and Symptoms
Common Signs and Symptoms
Orofaciodigital syndrome type IV (OFDS IV) is a rare genetic disorder characterized by various physical abnormalities. The signs and symptoms of OFDS IV can vary widely, but most forms of this disorder involve problems with development of the oral cavity, face, and digits.
- Abnormalities in the Oral Cavity: Affected individuals may have an opening in the roof of the mouth (cleft palate), extra or missing teeth, and a cleft lip.
- Facial Features: Some people with OFDS IV may have abnormal facial features, such as a highly arched palate, bifid uvula, and fusion of fingers or toes.
- Digital Abnormalities: Postaxial polydactyly (extra fingers or toes) is a common feature in individuals with OFDS IV.
Other Possible Symptoms
In addition to the above-mentioned symptoms, some people with OFDS IV may experience other abnormalities, such as:
- Abnormal Eye Movements: Some cases have been reported to have abnormal eye movements.
- Lingual Hamartomas: These are growths on the tongue that can be a feature of OFDS IV.
- Intellectual Disability: In some cases, individuals with OFDS IV may experience intellectual disability or developmental delays.
References
- [1] (2) - 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 people may have a highly arched palate and bifid uvula.
- [3] - 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).
- [5] - The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity.
- [9] - Symptoms include abnormalities in the oral cavity, facial features, and digits, such as cleft tongue, extra teeth, cleft palate, and fusion of fingers or toes.
Note: The above information is based on the search results provided.
Additional Symptoms
- Facial Features
- Intellectual Disability
- Abnormalities in the Oral Cavity
- Digital Abnormalities
- Abnormal Eye Movements
- Lingual Hamartomas
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests and methods that can be used to diagnose Orofaciodigital Syndrome IV (OFD4).
- Clinical Genetic Test: According to search result 7, a Clinical Genetic Test offered by CEN4GEN Institute for Genomics and Molecular Diagnostics is available for conditions including OFD4.
- Genetic Testing: Search results 11 and 15 mention that genetic testing can be used to diagnose OFDS, which includes OFD4. However, it's essential to note that the majority of OFDS is transmitted as an autosomal recessive syndrome (search result 15).
- Imaging Studies: While not explicitly mentioned in the provided context, imaging studies such as X-rays or MRIs may be used to assess the extent of limb abnormalities and other physical features associated with OFD4.
- Physical Examination: A thorough physical examination by a qualified healthcare professional is crucial in identifying the characteristic features of OFD4, including lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs (search results 3 and 4).
It's worth noting that establishing care with an engaged and dedicated primary care provider may improve care and shorten the time it takes to reach an accurate diagnosis (search result 10).
Additional Diagnostic Tests
- Physical Examination
- Imaging Studies
- Genetic Testing
- Clinical Genetic Test
Treatment
Treatment Options for Orofaciodigital Syndrome Type IV
Orofaciodigital syndrome type IV, also known as Burn-Baraitser syndrome, is a rare genetic disorder that affects the development of the oral cavity, face, and digits. While there is no specific cure for this condition, various treatment options can help manage its symptoms.
- Speech Therapy: Speech therapy is often recommended to address communication difficulties associated with orofaciodigital syndrome type IV [7].
- Assessment and Treatment of Otitis Media: Aggressive treatment of otitis media (middle ear infections) is essential to prevent hearing loss and other complications [7].
- Surgical Interventions: Surgical procedures may be necessary to correct physical abnormalities, such as cleft palate or polydactyly [9].
Pharmacological Intervention
While there are no specific FDA-approved drugs for the treatment of orofaciodigital syndrome type IV, research has shown that pharmacological intervention with pan-FGFR inhibitors like AZD4547 may be beneficial in rescuing expression of the FGF pathway [4]. However, further studies are needed to confirm its efficacy and safety.
Consult a Healthcare Professional
It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances [3].
References:
[1] - Not relevant [2] - Describes symptoms, but not treatment options [3] - Recommends consulting a healthcare professional [4] - Discusses pharmacological intervention with AZD4547 [5] - Provides general information about orofaciodigital syndrome [6] - Describes oral-facial-digital syndromes in general [7] - Mentions speech therapy and treatment of otitis media [8] - Provides integrated disease information, but not specific to type IV [9] - Describes OFD Type IV (Burn-Baraitser Syndrome) symptoms and inheritance pattern
Recommended Medications
- pan-FGFR inhibitors like AZD4547
💊 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 Orofaciodigital syndrome (OFDS) IV has a differential diagnosis that includes other OFD syndromes and disorders.
According to search result [7], Differential diagnoses include other OFD syndromes and disorders (OFD2, 3, 4, 5, 6, 8 and 9), and familial cystic renal disease.
Additionally, search result [10] mentions that the differential diagnosis of OFDS is quite wide and includes Majewski short-rib polydactyly, Beemer–Langer syndrome, among others. However, it does not specifically mention OFD syndromes IV.
Therefore, based on the available information, the differential diagnosis for Orofaciodigital syndrome IV may include:
- Other OFD syndromes and disorders (OFD2, 3, 4, 5, 6, 8 and 9)
- Familial cystic renal disease
- Majewski short-rib polydactyly
- Beemer–Langer syndrome
Please note that this is not an exhaustive list, as the differential diagnosis for OFDS is quite wide.
Additional Differential Diagnoses
- Familial cystic renal disease
- Other OFD syndromes and disorders (OFD2, 3, 4, 5, 6, 8 and 9)
- Majewski short-rib polydactyly
- Beemer-Langer syndrome
Additional Information
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- t341282
- relatedICD
- http://example.org/icd10/M86.46
- core#notation
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- rdf-schema#label
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- 2015-09-18T15:00:19Z
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- DOID:0060374
- oboInOwl#created_by
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- oboInOwl#hasDbXref
- UMLS_CUI:C0406727
- IAO_0000115
- An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
- oboInOwl#hasExactSynonym
- OFD4
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- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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