orofaciodigital syndrome XVII

Orofaciodigital Syndrome XVII (OFD17) Overview

Orofaciodigital syndrome XVII, also known as OFD17, is a rare genetic disorder characterized by malformations of the oral cavity, face, and digits. It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Key Features:

• Abnormalities in the oral cavity, facial features, and digits
  • Cleft tongue ([8])
  • Extra teeth ([8])
  • Cleft palate ([8])
  • Fusion of fingers or toes ([8])
• Other symptoms may include:
  • Developmental delay ([11])
  • Facial dysmorphism ([11])
  • High palate ([11])
  • Tongue nodules ([11])
  • Brain malformations ([11])
  • Cardiac anomaly ([11])
  • Polydactyly ([11])
  • Renal malformation ([11])

Causes and Associations:

• OFD17 is caused by a homozygous mutation in the INTU gene on chromosome 4q28 ([2], [7])
• The condition is associated with juvenile nephronophthisis and nephronophthisis ([10])

References:

[1] - Not applicable (no definition provided) [2] - Evidence of a homozygous mutation in the INTU gene causing OFD17 [4] - Definition of short stature, which is not directly related to OFD17 but provides context for understanding height-related abnormalities [7] - Confirmation that OFD17 is caused by a homozygous mutation in the INTU gene [8] - Description of symptoms associated with OFD17 [10] - Association between OFD17 and juvenile nephronophthisis and nephronophthisis [11] - Detailed description of symptoms and features associated with OFD17

Orofaciodigital Syndrome XVII (OFD17) Signs and Symptoms

Orofaciodigital syndrome XVII (OFD17) is a rare genetic disorder characterized by various physical abnormalities. The signs and symptoms of OFD17 can vary in severity and may include:

• Abnormalities of the head or neck: High, narrow palate; Median cleft upper lip; Prominent nose; Short neck [1]
• Abnormalities of the limbs: Central Y-shaped vertebral anomaly; Fusion of fingers or toes [2]
• Oral cavity abnormalities: Cleft tongue; Extra teeth; Cleft palate [2]
• Facial features: Bulbous nose; Apparently low-set ears [3]
• Intellectual disability and speech delay: Myoclonic jerks, profound intellectual disability, and speech delay may also occur [3]
• Cardiovascular abnormalities: Tetralogy of Fallot [4]
• Neurological abnormalities: Speech delay, myoclonic jerks, and oculomotor apraxia (resulting in "metronome eye movements") [5]

Other possible signs and symptoms of OFD17 include:

• Hypertelorism (wide-set eyes) [6]
• Wide nasal bridge [6]
• Lobulated tongue [6]
• Brachydactyly (short fingers) and polydactyly (extra fingers or toes) [7]

It's essential to note that the severity and specific signs and symptoms of OFD17 can vary significantly from person to person.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Based on the provided context, it appears that there are several diagnostic tests available for orofaciodigital syndrome XVII (OFDS XVII). Here are some of the relevant details:

• Molecular genetic testing: This is a clinically available test for confirmatory diagnostic purposes, specifically targeting the OFD1 gene associated with OFD I. [8]
• Targeted variant analysis: This is one of the molecular genetics tests available in the database for OFDS XVII, which can help identify specific genetic variants associated with the syndrome. [11]
• Clinical tests: There are six clinical tests available in the database for OFDS XVII, which may include physical examinations, medical histories, and other diagnostic procedures to assess the presence of symptoms such as developmental delay, facial dysmorphism, and other abnormalities.
• Intu coordinates ciliogenesis: This is a first-tier clinical diagnostic test that can help diagnose individuals with OFD I, but its relevance to OFDS XVII is not explicitly stated. [12]

It's worth noting that the diagnosis of a particular subtype of orofaciodigital syndrome, including OFDS XVII, can be challenging due to the varied presentation of symptoms. A comprehensive diagnostic approach may involve a combination of clinical evaluation, genetic testing, and other specialized tests.

References:

[8] CEN4GEN Institute for Genomics and Molecular Diagnostics [11] National Institutes of Health (NIH) [12] Intu coordinates ciliogenesis in vertebrates...

Based on the provided context, it appears that there is limited information available on the specific drug treatment for Orofaciodigital Syndrome type XVII (OFDS XVII). However, I can provide some general information on the topic.

Treatment Overview

According to search result [5], OFD1, which includes OFDS XVII, can be treated with reconstructive surgery or affected parts of the body. This may include surgery for cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion.

Pharmacological Implications

Search result [12] mentions that prophylactic antibiotics must be considered in cases of cardiac defect. However, it does not provide specific information on drug treatment for OFDS XVII.

Orphan Drugs

Search result [10] discusses orphan drugs developed specifically for the treatment of rare diseases. While this is a relevant topic, it does not provide direct information on the drug treatment for OFDS XVII.

Integrated Disease Information

Search result [8] provides integrated disease information for Orofaciodigital Syndrome, including associated genes, mutations, phenotypes, pathways, drugs, and more. However, it does not specifically mention drug treatment for OFDS XVII.

Unfortunately, based on the provided context, I could not find any specific or relevant information on the drug treatment for Orofaciodigital Syndrome type XVII (OFDS XVII). The available information seems to be more general and related to other aspects of the condition. If you would like me to search again or ask something else, please let me know.

References: [5] - December 3, 2023 [10] - Orphan drugs are those developed specifically for the treatment of rare diseases. [12] - Pharmacological implications. ++. Prophylactic antibiotics must be considered in cases of cardiac defect.

Based on the provided context, differential diagnoses for Orofaciodigital syndrome type I (OFD1) include other OFD syndromes and disorders (OFD2, 3, 4, 5, 6, 8 and 9), and familial cystic renal disease.

However, since you asked about orofaciodigital syndrome XVII, I will provide information on differential diagnoses for that specific type. Unfortunately, the context provided does not mention OFD17 specifically. But based on general knowledge of Orofaciodigital syndromes, here are some possible differential diagnoses:

• Other Orofaciodigital syndromes: As mentioned earlier, there are at least 13 related conditions affecting the mouth, facial features, and digits (Source: [5]). It is likely that OFD17 would be considered alongside these other types.
• Familial cystic renal disease: This condition affects the kidneys and may present with similar symptoms to Orofaciodigital syndromes. However, it is essential to note that this is a separate entity from OFD1 (Source: [3]).
• Other rare developmental disorders: Given the rarity of Orofaciodigital syndromes, it's possible that other conditions affecting the mouth, face, and digits may be considered in the differential diagnosis for OFD17.

It's essential to consult with a medical professional or a geneticist for an accurate differential diagnosis. They would consider various factors, including clinical presentation, family history, and genetic testing results.

References: * [3] - Differential diagnoses include other OFD syndromes and disorders (OFD2, 3, 4, 5, 6, 8 and 9), and familial cystic renal disease. * [5] - Orofaciodigital syndrome is a group of at least 13 related conditions affecting the mouth, facial features, and digits.