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orofaciodigital syndrome VII
ICD-10 Codes
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Description
Orofaciodigital syndrome (OFDS) VII is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. The condition is characterized by a range of abnormalities, including:
- Cleft lip and palate: A split in the upper lip and/or roof of the mouth [1]
- Extra or missing teeth: Affected individuals may have extra, missing, or differently shaped teeth [1]
- Facial asymmetry: The face may be unevenly developed on one side [3]
- Pseudocleft lip: A condition where the upper lip appears to be split, but is not actually a cleft [3]
- Lobulated tongue: The tongue may have an unusual shape or appearance [3]
- Hydronephrosis: A condition where the kidneys are swollen due to a blockage in the urinary tract [5]
- Delayed development and low intelligence: Affected individuals may experience delayed growth and development, as well as lower than average intelligence [3]
It's worth noting that OFDS VII is a rare condition, and the symptoms can vary widely from person to person. The exact cause of the condition is not fully understood, but it is believed to be inherited in an autosomal dominant pattern [7].
Additional Characteristics
- Hydronephrosis
- Cleft lip and palate
- Facial asymmetry
- Extra or missing teeth
- Pseudocleft lip
- Lobulated tongue
- Delayed development and low intelligence
Signs and Symptoms
Common Signs and Symptoms of Orofaciodigital Syndrome Type VII (Whelan Syndrome)
Orofaciodigital syndrome type VII, also known as Whelan Syndrome, is a rare genetic disorder characterized by a combination of oral, facial, and digital abnormalities. The signs and symptoms of this condition can vary widely among affected individuals.
Key Features:
- Facial Asymmetry: Individuals with OFD Type VII may exhibit facial asymmetry, which can range from mild to severe.
- Congenital Hydronephrosis: This condition is characterized by the presence of a kidney abnormality that is present at birth.
- Preauricular Tags: Small skin tags or growths located near the ears are a common feature of OFD Type VII.
Other Possible Features:
- Cleft Lip and/or Palate: Some individuals with OFD Type VII may have cleft lip and/or palate, which can affect speech and eating.
- Extra, Missing, or Defective Teeth: Dental anomalies are common in this condition, and affected individuals may have extra, missing, or defective teeth.
- Abnormalities of the Digits: Fusion of fingers or toes is a possible feature of OFD Type VII.
References:
- [4] - The "molar tooth sign" (MTS) on brain MRI is associated with one or more of these features in individuals with OFD VI, but similar signs and symptoms are also present in OFD Type VII.
- [5] - This reference specifically mentions the occurrence of OFD Type VII in one family, highlighting its rare nature.
Please note that the severity and presentation of OFD Type VII can vary significantly among affected individuals. If you have any specific questions or would like more information on this topic, feel free to ask!
Additional Symptoms
- Facial Asymmetry
- Congenital Hydronephrosis
- Preauricular Tags
- or Palate
- Extra, Missing, or Defective Teeth
- Abnormalities of the Digits
Diagnostic Tests
Based on the provided context, it appears that there are limited resources available for diagnosing Orofaciodigital Syndrome (OFS) type VII.
However, according to search result [3], a study published in the American Journal of Medical Genetics Part A in 2007 provides diagnostic guidelines for OFS. The article, titled "Oral–facial–digital syndromes: Review and diagnostic guidelines," by Gurrieri et al., discusses the diagnostic criteria for various types of OFS, including type VII.
The study mentions that diagnosis is based on clinical findings, such as facial asymmetry, pseudocleft lip, lobulated tongue, hydronephrosis, delayed development, and low intelligence [6]. Additionally, it notes that genetic testing may be useful in confirming the diagnosis, particularly for families with a history of the condition.
In terms of specific diagnostic tests, there is limited information available. However, search result [8] mentions that diagnosis of OFD VII (which includes unilateral cleft lip and hydronephrosis) has only been described in one mother-daughter pair, who were later found to have mutations in the OFD1 gene.
It's worth noting that Quest Diagnostics, a laboratory testing company, provides genetic testing services for various conditions, including rare genetic disorders [10]. However, it is unclear whether they offer specific diagnostic tests for Orofaciodigital Syndrome type VII.
Overall, while there are some resources available for diagnosing OFS type VII, more research and information are needed to fully understand the diagnostic criteria and testing options for this condition.
Additional Diagnostic Tests
- Genetic Testing
- Clinical Examination
Treatment
Based on the provided context, it appears that there are limited resources available for the treatment of Orofaciodigital Syndrome (OFD) Type VII, also known as Whelan Syndrome.
According to search result [5], the treatment of manifestations in OFD Type VII may include:
- Surgery for cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly
- Speech therapy and other special treatments for learning disabilities and other associated conditions
Additionally, search result [9] mentions that treatments may also include cosmetic or reconstructive surgery for oral and hand abnormalities.
It's worth noting that the information available on this topic is limited, and more research is needed to fully understand the treatment options for OFD Type VII. However, based on the provided context, it seems that a multidisciplinary approach involving medical professionals from various specialties may be necessary to address the complex needs of individuals with this condition.
References:
- [5] by B Franco · 2023 · Cited by 8 — Treatment of manifestations: Surgery for cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly; speech therapy and ...
- [9] 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 ...
Recommended Medications
- Surgery
- Speech therapy
- reconstructive surgery
💊 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
The differential diagnosis for Orofaciodigital Syndrome (OFDS) VII, also known as Whelan syndrome, includes other conditions that present with similar symptoms.
- Other OFD syndromes: The context mentions that the differential diagnosis for OFDS VII includes other types of OFD syndromes, such as OFD2, 3, 4, 5, 6, 8, and 9 [1]. These conditions also affect the development of the oral cavity, facial features, and digits.
- Familial cystic renal disease: The context notes that familial cystic renal disease is another differential diagnosis for OFDS VII [2].
- Majewski short-rib polydactyly: This condition is mentioned as a differential diagnosis for OFDS in general, but it's not clear if it specifically applies to OFDS VII [3].
- Beemer–Langer syndrome: This is another rare genetic disorder that may be considered in the differential diagnosis of OFDS VII [4].
It's worth noting that the context mentions that the differential diagnosis for OFDS is quite wide, and a definitive diagnosis can only be made through molecular testing [5].
Additional Differential Diagnoses
- OFD2
- OFD3
- OFD4
- OFD5
- OFD6
- Familial cystic renal disease
- Majewski short-rib polydactyly
- Beemer-Langer syndrome
Additional Information
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