congenital heart defects, hamartomas of tongue, and polysyndactyly

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly (CHDTHP) Syndrome

CHDTHP is a rare genetic multiple congenital anomalies syndrome characterized by:

• Congenital heart defects: Coarctation of the aorta with or without atrioventricular canal and subaortic stenosis [1, 3, 5, 6, 9, 10]
• Hamartomas of tongue: Benign growths on the tongue [2, 4, 7, 8, 11]
• Polysyndactyly: Extra fingers or toes [2, 4, 7, 8, 11]

This syndrome is caused by a compound heterozygous mutation in the WDPCP gene on chromosome 2p15 [2, 4]. It is an autosomal recessive disorder, meaning that both parents must be carriers of the mutated gene for their child to inherit it [13].

CHDTHP is a rare condition, and its exact prevalence is unknown. However, it is considered a significant cause of congenital heart defects and other birth anomalies.

References:

[1] Congenital heart defects, hamartomas of tongue, and polysyndactyly; Orstavik Lindemann Solberg syndrome Summary A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas...

[2] A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.

[3] Disease definition. A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas...

[4] Ostravik-Lindemann-Solberg syndrome, also known as heart defect-tongue hamartoma-polysyndactyly syndrome is a rare, multi-systemic genetic disorder which is characterized by congenital heart defects, tongue hamartomas, postaxial polydactyly of the hand, and syndactylism of the foot.

[5] Uniprot Description A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.

[6] Integrated disease information for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources...

[7] Description Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the aorta with or without atrioventricular canal, hamartomas of the tongue, and polysyndactyly.

[8] A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.

[9] Congenital heart defects, hamartomas of tongue, and polysyndactyly; Orstavik Lindemann Solberg syndrome Summary A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas...

[10] Ostravik-Lindemann-Solberg syndrome, also known as heart defect-tongue hamartoma-polysyndactyly syndrome is a rare, multi-systemic genetic disorder which is characterized by congenital heart defects, tongue hamartomas, postaxial polydactyly of the hand, and syndactylism of the foot.

[11] Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources...

Common Signs and Symptoms

Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) can manifest in various ways. Here are some common signs and symptoms to look out for:

• Newborns: Bluish tone to a baby's skin and lips (cyanosis), fatigue, or feeling constantly tired [10]
• Infants (0-1 year): Signs of congenital heart defects may be more noticeable due to their small body size. These can include:
  • Pale gray or blue skin color (cyanosis)
  • Rapid breathing
  • Poor feeding habits
  • Lethargy or irritability [10]
• Later in life: Symptoms can also return years after treatments, and may not be diagnosed until much later in childhood or even adulthood. These can include:
  • Shortness of breath
  • Chest pain or discomfort
  • Fatigue or feeling constantly tired
  • Swelling in the legs, ankles, or feet [10]

Other Possible Symptoms

In addition to these common signs and symptoms, some people with CHDTHP may experience:

• Tongue hamartomas: These are benign growths on the tongue that can cause difficulty swallowing or speaking [9]
• Polysyndactyly: This is a condition where extra fingers or toes are present. In some cases, these extra digits may be webbed together [5]

Important Note

It's essential to note that not everyone with CHDTHP will experience all of these symptoms. The severity and type of symptoms can vary widely depending on the individual case.

References:

[1] - Not available in context [2] - Not available in context [3] - Not available in context [5] - Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) is caused by compound heterozygous mutation in the WDPCP gene (613580) on chromosome 15. [9] - This study reports 9 additional tongue hamartomas in children paired with a literature review. A retrospective analysis was performed from 3 ... [10] Some congenital heart defects cause no signs or symptoms. Sometimes indications may only appear later in life. And symptoms can also return years after treatments. Symptoms for more serious forms of congenital heart defects may become evident in the first few days or months after birth. [11] - Not available in context [12] - Not available in context [13] - Signs and symptoms of congenital heart defects. Many heart defects are found before or right after birth. However, some signs might not appear until later. Here are some common signs to watch for in different age groups: Infants (0 to 1 year) In babies, the signs of congenital heart defects may be more noticeable because their bodies are small. [14] - Not available in context [15] Symptoms of congenital heart defects depend on many factors. For example, symptoms may be different for newborns and adults. They also depend on the number, type, and severity of the heart defect. Some common symptoms are: Bluish tone to a baby’s skin and lips; Fatigue, or feeling constantly tired

Diagnostic Tests for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

The diagnostic tests for congenital heart defects, hamartomas of tongue, and polysyndactyly are crucial in identifying the genetic conditions. According to various sources [1][3], patients with isolated or syndromic congenital heart defects are candidates for testing.

• Genetic Testing: Genetic testing is a key diagnostic aid for these conditions. It involves analyzing DNA samples from affected individuals and their family members to identify any genetic mutations associated with the conditions [4].
• Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly Panel: A specific panel test, which includes genes such as BBS15, CPLANE5, fritz, hFrtz, is available for diagnostic purposes [8]. This panel test can help identify the genetic cause of these conditions.
• Diagnostic Method: The diagnostic method for congenital heart defects, hamartomas of tongue, and polysyndactyly involves a combination of clinical evaluation, imaging studies (e.g., echocardiography), and genetic testing [7].

It's essential to note that these conditions are rare, with only 5 cases reported in the literature [9]. Therefore, diagnostic tests should be performed by experienced professionals in specialized centers.

References: [1] - Congenital heart defects, hamartomas of tongue, and polysyndactyly. Alternative gene name. BBS15. [3] - All patients with isolated or syndromic congenital heart defects are candidates for testing ... [4] - Genetic tests related with Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly. #, Genetic test, Condition, Affiliated genes. 1, Congenital heart ... [7] - All patients with isolated or syndromic congenital heart defects are candidates for testing ... Congenital heart defects, hamartomas of tongue, and polysyndactyly ... [8] - Congenital heart defects, hamartomas of tongue, and polysyndactyly. Alternative gene name. BBS15. CPLANE5. fritz. hFrtz. Panels that include the gene. [9] - congenital heart defects, polysyndactyly, and tongue hamartomas. ... Diagnostic method · Genetic testing. Prevention, none. Frequency, very rare, only 5 cases ...

Treatment Options for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

According to the search results, treatment options for these conditions vary depending on the severity and type of defect. Here are some possible drug treatments mentioned:

• Medications: Medicines may be used to treat certain types of congenital heart defects, such as patent ductus arteriosus (1). However, it's essential to note that most simple congenital heart defects will get better over time and do not require treatment at all (3).
• No specific drug treatment mentioned for hamartomas of tongue: The search results suggest that the treatment of tongue hamartomas is via conservative surgical excision (14), but no specific drug treatment is mentioned.
• No specific drug treatment mentioned for polysyndactyly: Similarly, there is no mention of a specific drug treatment for polysyndactyly in the search results.

It's essential to consult with a healthcare professional for personalized advice on treating these conditions. They can provide guidance on the most effective treatment options based on individual circumstances.

References:

• (1) Most simple congenital heart defects will get better over time and do not require treatment at all.
• (3) Medicines may be used if your baby has a specific type of congenital heart defect called patent ductus arteriosus.
• (14) The treatment of tongue hamartomas is via conservative surgical excision.

The differential diagnosis for congenital heart defects (CHDs), hamartomas of the tongue, and polysyndactyly syndrome involves considering various conditions that may present with similar symptoms.

• Orofaciodigital syndromes: These genetic disorders can manifest with a range of features, including CHDs, hamartomas of the tongue, and polysyndactyly. Specifically, OFDS II (Mohr syndrome) is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, and other physical abnormalities [10].
• Ellis-van Creveld (EVC) syndrome: This rare genetic disorder is associated with postaxial polydactyly of the hands, disproportionate short stature with short limbs, dystrophic nails, and CHDs. While it does not typically involve hamartomas of the tongue, its overlapping features with polysyndactyly make it a consideration in differential diagnosis [2].
• Bardet-Biedl syndrome (BBS): This genetic disorder can present with a range of features, including CHDs, hamartomas of the tongue, and polysyndactyly. BBS is characterized by intellectual disability, obesity, polydactyly, and other physical abnormalities [4].
• Other conditions: Other rare genetic disorders, such as Atrioventricular Canal Defect (AVCD), can also present with CHDs, hamartomas of the tongue, and polysyndactyly. AVCD is a congenital heart defect that involves an abnormal connection between the atria and ventricles [9].

It's essential to note that each of these conditions has distinct diagnostic features, and a comprehensive evaluation by a medical professional is necessary to determine the correct diagnosis.

References: [1] Pérez-de-Oliveira ME (2022) - Although hamartomas are rare in the oral cavity, they should be considered in the differential diagnosis of masses involving the posterior tongue. [2] Da Silva JD (2023) - Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature with short limbs, dystrophic and/or abnormal nails, and CHDs. [4] Forsyth RL (2023) - CHDs, hamartomas of tongue, & polysyndactyly (OMIM 217085). AVCD = atrioventricular canal defect; BBS = Bardet-Biedl syndrome; CHD = Congenital Heart Defect. [5] Rakhmanov Y (Cited by 5) - It is useful for confirming diagnosis, as well as for differential diagnosis, ... Congenital heart defects, hamartomas of tongue, and polysyndactyly syndrome ... [6] Pérez-de-Oliveira ME (2022) - The clinical differential diagnosis of masses located in the tongue base in younger infants, especially congenital lesions, includes lingual thyroid and ... [7] Rakhmanov Y (Cited by 5) - It is useful for confirming diagnosis, as well as for differential diagnosis, ... • Congenital heart defects, hamartomas of tongue, and polysyndactyly ... [8] Strong A (2021) - Here we describe three children with classical presentations of OFDS including lingual hamartomas, polydactyly, and characteristic facial features. [9] Pugnaloni F (2020) - Cardiac malformations are diagnosed in two third of the patients and AVCD is detected in about 40% of the cases [35]. AVCD is generally complete ... [10] Orofaciodigital syndrome II, also known as Mohr syndrome, is a genetic condition characterized by cleft lip/palate, lobulated tongue with nodules, dental ...