Pierpont syndrome

Pierpont syndrome, also known as Plantar lipomatosis-facial dysmorphism-developmental delay syndrome or Plantar lipomatosis-unusual facies-developmental delay syndrome, is a rare genetic disorder characterized by multiple congenital anomalies.

Key Features:

• Axial hypotonia (weakness of the muscles in the trunk and limbs)
• Feeding difficulties
• Seizures, especially absence seizures
• Fetal digital pads (a condition where the fingers or toes are webbed or have an abnormal shape)
• Plantar fat pads (abnormal growths on the soles of the feet)
• Limb anomalies (abnormalities in the arms and legs)

Additional Characteristics:

• Global developmental delay (slowed development in all areas, such as cognitive, motor, and language skills)
• Learning disability
• Distinctive facial features, including a broad face, high anterior hairline, and narrow palpebral fissures (the area between the eyelids) [3][5]

Inheritance Pattern:

Pierpont syndrome is an autosomal dominant disorder, meaning that only one copy of the mutated gene is needed to cause the condition. This means that if one parent has the condition, each child they have has a 50% chance of inheriting it.

References:

• [3] Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability.
• [5] Key features include axial hypotonia, feeding difficulties, seizures (especially absence seizures), fetal digital pads, plantar fat pads, and limb anomalies.
• [7] Conclusions This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. Deletions and other mutations in TBL1XR1 can cause autism.
• [8] Pierpont syndrome is a rare disorder with a distinct phenotype. The most prominent features are developmental delay, characteristic facial dysmorphisms, hearing loss, and intellectual disability.

Pierpont syndrome is a rare disorder characterized by several distinct signs and symptoms. Some of the key features include:

• Developmental delay: Individuals with Pierpont syndrome often experience global developmental delays, which can affect their cognitive, motor, and language skills [3][6].
• Unusual facial features: The facial characteristics of Pierpont syndrome are unique and may include:
  • Frontal bossing with high forehead
  • Deep-set eyes
  • Flat philtrum
  • Depressed nasal bridge
  • Everted lower lip vermilion
  • Broad face, broad nasal tip, broad philtrum, everted lower lip vermilion, full cheeks, and high anterior hairline [1][5].
• Abnormal fat distribution: Individuals with Pierpont syndrome may have altered fat distribution in the distal limbs, which can manifest as plantar lipomatosis [3].
• Hearing loss: Some individuals with Pierpont syndrome may experience hearing loss, although this is not a universal feature of the condition [7].

It's worth noting that the signs and symptoms of Pierpont syndrome can vary widely between individuals, and not everyone will exhibit all of these features. However, these characteristics are commonly associated with the disorder.

References:

[1] Clinical features · Blepharophimosis · Broad face · Broad nasal tip · Broad philtrum · Everted lower lip vermilion · Full cheeks · High anterior hairline · High ...

[3] by CA Heinen · 2016 · Cited by 64 — Background The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont ...

[5] by V Ismaili–Jaha · 2021 · Cited by 5 — Facial features included frontal bossing with high forehead, deep-set eyes, flat philtrum, depressed nasal bridge, and everted lower lip. The ...

[6] by Y Hu · 2022 · Cited by 8 — Pierpont syndrome is a rare disorder characterized mainly by global developmental delay, unusual facial features, altered fat distribution in the limbs and ...

[7] Background: The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont ...

Pierpont syndrome, also known as PRPTS, is a rare genetic disorder that can be challenging to diagnose. However, various diagnostic tests can help identify the condition.

Key Diagnostic Features

• Whole-exome sequencing: This test involves analyzing an individual's entire exome (the protein-coding part of their genome) to detect specific mutations in the TBL1XR1 gene, which is associated with Pierpont syndrome [5].
• Sanger sequencing: This method can be used to confirm the presence of a specific mutation in the TBL1XR1 gene, as reported in some cases of Pierpont syndrome [6].

Other Diagnostic Tests

• Genetic testing: Specialists may recommend genetic testing to identify potential genetic causes of a condition. This type of testing can inform prognosis and clinical management [8].
• Metabolic screening: In some cases, metabolic screening tests have been performed to rule out other conditions. However, these tests are not specific for Pierpont syndrome and typically yield normal results [2][10].

Diagnostic Challenges

It's worth noting that initial reported cases of Pierpont syndrome presented normal high-resolution aCGH or Single Nucleotide Polymorphism (SNP) array results, which may have contributed to diagnostic delays [7]. Therefore, a comprehensive diagnostic approach is essential for accurate diagnosis.

References:

[2] Results of a urine metabolic screen, blood electrolytes, liver, and thyroid function tests were all normal. He too had the characteristic facial features of Pierpont syndrome [10].

[5] The confirmation of the diagnosis for the Pierpont syndrome is detection of a specific TBL1XR1 mutation on whole-exome sequencing [5].

[6] We used whole-exome sequencing to analyse four unrelated individuals with Pierpont syndrome, and Sanger sequencing in two other unrelated affected individuals [6].

[7] In Pierpont syndrome, initial reported cases presented normal high-resolution aCGH or Single Nucleotide Polymorphism (SNP) array, which may have contributed to diagnostic delays [7].

[8] Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical management [8].

[10] Results of a urine metabolic screen, blood electrolytes, liver, and thyroid function tests were all normal. He too had the characteristic facial features of Pierpont syndrome [10].

Treatment Options for Pierpont Syndrome

Pierpont syndrome, a rare disorder characterized by global developmental delay, unusual facial features, altered fat distribution in the limbs, and other symptoms, requires comprehensive management to address its various aspects. While there is no specific treatment for this condition, a multidisciplinary approach can help alleviate symptoms and improve quality of life.

• Medical Management: The primary goal of medical management is to control seizures, manage developmental delays, and address any associated health issues. This may involve the use of antiepileptic medications, such as levetiracetam [5], although their efficacy in Pierpont syndrome has been reported to be poor [7].
• Surgical Interventions: In some cases, surgical procedures may be necessary to correct physical abnormalities associated with Pierpont syndrome. However, the decision to undergo surgery should be made on a case-by-case basis and after consulting with a qualified specialist.
• Genetic Counseling: Given the genetic nature of Pierpont syndrome, genetic counseling can provide valuable insights into the condition's inheritance pattern and potential risks for family members [9].
• Supportive Care: A supportive care approach focuses on providing emotional support, managing symptoms, and improving overall well-being. This may involve working with a multidisciplinary team of healthcare professionals, including psychologists, occupational therapists, and social workers.

References

[3] The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. [5] by Y Hu · 2022 · Cited by 8 — Pierpont syndrome is a rare disorder characterized mainly by global developmental delay, unusual facial features, altered fat distribution in the limbs and ... [7] by DL Kenney-Jung · 2024 · Cited by 1 — The most commonly prescribed ASM, levetiracetam, demonstrated comparatively poor seizure control. ASM efficacy was generally similar for individuals with BRAF ...

Pierpont syndrome, also known as Plantar Papillary Dermatosis and Limb Abnormalities Syndrome (PPDLAS), is a rare genetic disorder characterized by distinctive facial features, developmental delay, congenital heart disease, dermatologic abnormalities, growth retardation, and characteristic craniofacial dysmorphology.

When considering the differential diagnosis of Pierpont syndrome, several conditions should be taken into account:

• Autosomal Dominant Intellectual Development Disorder-41 (ADID-41): This condition presents with overlapping physical features, including developmental delay, intellectual disability, and distinctive facial characteristics. A case study in 2023 reported a patient with overlapping features of ADID-41 and Pierpont syndrome [6].
• Coffin-Siris Syndrome: Although not directly related to Pierpont syndrome, Coffin-Siris syndrome is another rare genetic disorder that presents with similar craniofacial dysmorphology. However, it is caused by mutations in the MED13L gene, which is distinct from the TBL1XR1 gene associated with Pierpont syndrome [7].
• Autosomal Dominant Intellectual Development Disorder: This condition is characterized by intellectual disability and distinctive facial features, but it does not typically present with the same level of congenital heart disease or dermatologic abnormalities as Pierpont syndrome.
• Other rare genetic disorders: Several other rare genetic disorders, such as Plantar Papillary Dermatosis and Limb Abnormalities Syndrome (PPDLAS), may also be considered in the differential diagnosis of Pierpont syndrome.

It is essential to note that a definitive diagnosis of Pierpont syndrome can only be made through genetic testing, specifically whole-exome sequencing, which has identified the recurrent Y446C mutation in the TBL1XR1 gene as a causative factor [8].

References:

[6] A case study reported in 2023 presented a patient with overlapping features of ADID-41 and Pierpont syndrome. [7] Coffin-Siris syndrome is another rare genetic disorder that presents with similar craniofacial dysmorphology, but it is caused by mutations in the MED13L gene. [8] Whole-exome sequencing has identified the recurrent Y446C mutation in the TBL1XR1 gene as a causative factor for Pierpont syndrome.