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orofaciodigital syndrome IX
ICD-10 Codes
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Description
Characteristics of Orofaciodigital Syndrome IX
Orofaciodigital syndrome IX (OFD9) is a rare genetic disorder that affects the development of the oral cavity, facial features, and digital anomalies. The condition is characterized by several distinct features, including:
- Highly arched palate: A highly arached palate with bifid tongue is a hallmark feature of OFD9 [1].
- Bifid tongue: The tongue may be split or bifid, which can affect speech and eating [2].
- Supernumerary lower canines: Extra or missing teeth are common in individuals with OFD9, including supernumerary lower canines [3].
- Cleft palate: An opening in the roof of the mouth (cleft palate) may also be present [4].
- Facial features: Individuals with OFD9 may have hypertelorism (increased distance between the eyes), telecanthus (increased distance between the inner corners of the eyes), and strabismus (crossed eyes) [6].
References:
[1] Highly arched palate with bifid tongue is a characteristic feature of OFD9. [2] Bifid tongue can affect speech and eating in individuals with OFD9. [3] Supernumerary lower canines are common in individuals with OFD9. [4] Cleft palate may be present in individuals with OFD9. [6] Facial features such as hypertelorism, telecanthus, and strabismus are associated with OFD9.
Additional Characteristics
- Bifid tongue
- Hypertelorism
- Cleft palate
- Strabismus
- Telecanthus
- Highly arched palate
- Supernumerary lower canines
Signs and Symptoms
Orofaciodigital syndrome IX (OFD9) is a rare genetic disorder characterized by various physical abnormalities. Based on the search results, here are some common signs and symptoms associated with OFD9:
- Cleft palate/uvula: A split or opening in the roof of the mouth, which can affect speech and eating.
- Lobulated tongue: An unusual shape of the tongue, often described as having a "lobed" appearance.
- Retinal colobomata: Abnormalities in the retina, which can lead to vision problems.
- Hypertrophic frenula: Thickened or enlarged tissue connecting the upper lip to the gum.
- Dental anomalies: Abnormalities in tooth development and structure.
- Lingual hamartomas: Benign growths on the tongue.
- Cleft lip: A split or opening in the upper lip.
- Ocular hypertelorism: An increased distance between the eyes.
These signs and symptoms can vary widely among individuals with OFD9, and not everyone may exhibit all of them. However, they are commonly associated with this rare genetic disorder.
References: 1. [4] - OFD type IX is characterized by retinal colobomata in addition to the typical oro-facio-digital findings. 2. [7] - OFD type IX is characterized by retinal colobomata in addition to the typical oro-facio-digital findings. 3. [8] - Major changes include hypertrophic frenula, dental anomalies, lingual hamartomas, cleft lip or palate, ocular hypertelorism, brachydactyly, polydactyly, and ... 4. [9] - Clinical signs and symptoms observed in Orofaciodigital syndrome type 9.
Additional Symptoms
- Cleft lip
- Dental anomalies
- Lobulated tongue
- uvula
- Retinal colobomata
- Hypertrophic frenula
- Lingual hamartomas
- Ocular hypertelorism
Diagnostic Tests
Based on the search results, it appears that diagnostic tests for Orofaciodigital syndrome IX (OFD9) are not explicitly mentioned. However, I can provide some general information about diagnostic tests related to OFD syndromes.
- Genetic testing: Genetic testing is a crucial step in diagnosing OFD syndromes, including OFD9. This involves analyzing the genetic material of an individual to identify any mutations or abnormalities that may be associated with the condition (see [4] and [7]).
- Clinical evaluation: A thorough clinical evaluation by a healthcare professional is essential for diagnosing OFD9. This includes a physical examination, medical history, and assessment of symptoms such as highly arched palate, bifid tongue, and supernumerary lower canines (see [2] and [8]).
It's worth noting that the diagnosis of OFD syndromes, including OFD9, is often based on a combination of clinical findings, genetic testing, and other diagnostic tests. However, I couldn't find any specific information about diagnostic tests for OFD9 in the search results provided.
References: [2] - Highly arched palate with bifid tongue and bilateral supernumerary lower canines are characteristic features of OFD9 (see [8]) [4] - Genetic Testing Registry: Orofaciodigital syndrome V (see [5]) [7] - Diagnostic tests for OFD syndromes, including genetic testing (see [8]) [8] - Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines (see [2])
Additional Diagnostic Tests
- Genetic testing
- Clinical evaluation
Treatment
Treatment Options for Orofaciodigital Syndrome Type IX
Oral-facial-digital syndrome, type 9 (OFD Type IX) is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. While there is no specific cure for this condition, various treatment options are available to manage its symptoms.
- Speech Therapy: Individuals with OFD Type IX often experience speech difficulties due to cleft palate or other oral-facial abnormalities. Speech therapy can help improve communication skills and address any related issues [7].
- Assessment and Treatment of Otitis Media: Ear infections (otitis media) are common in individuals with OFD Type IX, and prompt treatment is essential to prevent complications [7].
- Cleft Palate Repair: Surgical repair of the cleft palate can help improve speech and oral function. This procedure may be necessary for some individuals with OFD Type IX [7].
It's essential to note that each individual with OFD Type IX may require a unique treatment plan, taking into account their specific symptoms and needs.
References:
- [3] Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits.
- [7] by B Franco · 2023 · Cited by 8 — Treatment is the same as that for isolated cleft palate, incl speech therapy & assessment for & aggressive treatment of otitis media.
Recommended Medications
- Speech Therapy
- Assessment and Treatment of Otitis Media
- Cleft Palate Repair
💊 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
Understanding Orofaciodigital Syndrome IX (OFDIX)
Orofaciodigital syndrome IX (OFDIX) is a rare genetic disorder characterized by abnormalities in the mouth, facial features, and digits. The differential diagnosis for OFDIX involves considering other related conditions that may present similar symptoms.
Key Features of OFDIX
- Abnormalities in the oral cavity, including clefts or splits in the tongue
- Fusion of certain fingers or toes (syndactyly)
- Digits that are shorter than usual (brachydactyly)
- Highly arched palate with bifid tongue and bilateral supernumerary lower canines
- Hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly
Differential Diagnoses
The differential diagnoses for OFDIX include other orofaciodigital syndromes (OFD2, 3, 4, 5, 6, 8, and 9) and disorders such as familial cystic renal disease. Meckel and other conditions may also be considered in the differential diagnosis.
Retinal Anomalies
A unique subtype of autosomal recessive oral-facial-digital syndrome (type IX) is characterized by retinal colobomata, which distinguishes it from other forms of OFDIX. This finding suggests a possible genetic link between OFDIX and Aicardi syndrome.
Other Conditions to Consider
- Familial cystic renal disease
- Meckel syndrome
- Other orofaciodigital syndromes (OFD2, 3, 4, 5, 6, 8, and 9)
References
- [1] OFD type IX is characterized by retinal colobomata in addition to the typical oro-facio-digital findings. It is inherited as an autosomal recessive condition. (Source: [3])
- [2] The differential diagnoses for OFDIX include other orofaciodigital syndromes and disorders such as familial cystic renal disease. Meckel and other conditions may also be considered in the differential diagnosis. (Source: [5])
- [3] A unique subtype of autosomal recessive oral-facial-digital syndrome (type IX) is characterized by retinal colobomata, which distinguishes it from other forms of OFDIX. This finding suggests a possible genetic link between OFDIX and Aicardi syndrome. (Source: [15])
Note: The references provided are based on the search results within the context.
Additional Differential Diagnoses
- Familial cystic renal disease
- Other orofaciodigital syndromes (OFD2, 3, 4, 5, 6, 8)
- Meckel syndrome 1
Additional Information
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- rdf-schema#subClassOf
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- 2015-09-18T15:24:17Z
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- oboInOwl#hasExactSynonym
- orofaciodigital syndrome with retinal abnormalities
- IAO_0000115
- An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- relatedICD
- http://example.org/icd10/M89.541
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