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orofaciodigital syndrome V
ICD-10 Codes
Related ICD-10:
Description
Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by a combination of physical and developmental abnormalities.
- Cleft palate/uvula: A split in the roof of the mouth, which can affect speech and eating.
- Lobulated tongue: An unusual shape of the tongue with multiple lobes or protrusions.
- Frontal bossing: A prominent forehead.
- Hypertelorism: Wide-set eyes.
- Postaxial polydactyly: Extra fingers on the hands and feet, located on the outer side (posterior) of the digits.
- Impaired intellectual development: Some individuals with OFD5 may experience delays in cognitive development or learning difficulties.
These symptoms can vary in severity and may be accompanied by other physical abnormalities. The exact cause of OFD5 is a homozygous mutation in the DDX59 gene on chromosome 1q32 [2].
It's worth noting that OFD5 is a rare condition, and research is ongoing to understand its causes and effects on individuals and families affected by it [11].
Additional Characteristics
- Frontal bossing
- Hypertelorism
- Impaired intellectual development
- Lobulated tongue
- uvula
- Postaxial polydactyly
Signs and Symptoms
Orofaciodigital syndrome V (OFD5) is a rare genetic disorder characterized by various physical abnormalities. The signs and symptoms of OFD5 include:
- Cleft palate/uvula: A split in the roof of the mouth, which can affect speech and eating.
- Lobulated tongue: An unusual shape of the tongue with one or more lobes.
- Frontal bossing: A prominent forehead.
- Hypertelorism: Wide-set eyes.
- Abnormalities in the oral cavity: Extra, missing, or defective teeth, as well as an opening in the roof of the mouth (cleft palate).
- Digital abnormalities: Fusion of fingers or toes, and/or extra digits.
Additionally, some individuals with OFD5 may also experience:
- Short femoral neck
- Bilateral cervical ribs
- Abnormal vertebral bodies
- Gracile long bones
These physical characteristics can vary in severity and combination among affected individuals. It's essential to consult a medical professional for an accurate diagnosis and guidance on managing the condition.
References: [6] - Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, ... [7] - 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. [8] - Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.
Additional Symptoms
- Frontal bossing
- Hypertelorism
- Abnormalities in the oral cavity
- Short femoral neck
- Bilateral cervical ribs
- Abnormal vertebral bodies
- Gracile long bones
- Lobulated tongue
- uvula
- Digital abnormalities
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests associated with orofaciodigital syndrome V (OFD5). Here's a summary of the relevant information:
- Direct sequencing of OFD1: This is one of the diagnostic methods mentioned in the context. It involves direct sequencing of the OFD1 gene to detect any mutations or genomic rearrangements that may be associated with OFD5.
- Dosage analysis: If direct sequencing is negative, dosage analysis can be performed to detect any genomic rearrangements not identifiable by direct sequencing. This test is also mentioned in the context as a diagnostic method for OFD5.
It's worth noting that these tests are specifically related to diagnosing orofaciodigital syndrome V (OFD5), and may not be applicable to other conditions.
References:
- [9] Direct sequencing of OFD1 and dosage analysis in negative cases to detect genomic rearrangements not identifiable by direct sequencing.
- [10] Not directly relevant, but Quest Diagnostics Incorporated is a CLIA certified laboratory that provides HIPAA covered services.
Additional Diagnostic Tests
- Direct sequencing of OFD1
- Dosage analysis
Treatment
Based on the available information, it appears that there is no specific drug treatment for Orofaciodigital Syndrome V (OFD5). However, treatments are focused on managing the various manifestations of the condition.
- Surgery may be required to correct cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly [4].
- Speech therapy may be necessary due to learning disabilities and other speech-related issues [8].
- Treatment for kidney problems, which can occur in some cases of OFD5, is directed at the specific symptoms and may involve medication or other interventions [10].
It's worth noting that treatment for OFD5 is largely focused on managing the physical manifestations of the condition, rather than a specific "drug treatment" per se. The emphasis is on addressing the various symptoms and complications that can arise from this rare genetic disorder.
References:
[4] Treatment of manifestations: Surgery for cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly; speech therapy and ... [8] by SN Ahmed · Cited by 2 — Treatments include cosmetic or reconstructive surgery for oral and hand abnormalities, special treatment and training for learning disabilities and other ... [10] There is no specific treatment for this syndrome. Treatment is directed at the problems encountered in an individual. For some patients the kidney problems ...
Recommended Medications
- Medication
- Surgery
- Speech therapy
💊 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
Differential Diagnoses for Orofaciodigital Syndrome V (OFD5)
Orofaciodigital syndrome V (OFD5) is a rare genetic disorder characterized by abnormalities in the oral cavity, facial features, and digits. When diagnosing OFD5, it's essential to consider other conditions that may present
Additional Differential Diagnoses
- Skeletal Dysplasias
- Epidemodysplasia Verruciformis
- N syndrome
- neurofibromatosis 1
- cleidocranial dysplasia
Additional Information
- relatedICD
- http://example.org/icd10/Q71.32
- core#notation
- DOID:0060375
- rdf-schema#label
- orofaciodigital syndrome V
- rdf-schema#subClassOf
- t341508
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1401
- owl#annotatedSource
- t340946
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#creation_date
- 2015-09-18T15:00:19Z
- oboInOwl#id
- DOID:0060375
- oboInOwl#created_by
- elvira
- oboInOwl#hasDbXref
- UMLS_CUI:C1868118
- IAO_0000115
- An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
- oboInOwl#hasExactSynonym
- polydactyly, postaxial, with median cleft of upper lip
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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