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Pierpont syndrome: a collaborative study.

Emma M M Burkitt Wright¹, Mohnish Suri, Susan M White

¹Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

American Journal of Medical Genetics. Part A

|August 12, 2011

Summary

This summary is machine-generated.

Pierpont syndrome, a rare congenital anomaly with learning disability, is characterized by distinct facial features, limb abnormalities, and plantar fat pads. Its genetic cause remains elusive despite further patient identification.

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Area of Science:

Medical Genetics
Clinical Dysmorphology
Rare Diseases

Background:

Pierpont syndrome is a rare multiple congenital anomaly syndrome.
First described in 1998, only three cases were previously documented.
Characterized by learning disability, distinctive facial features, and limb abnormalities.

Purpose of the Study:

To retrospectively characterize key features of Pierpont syndrome.
To identify additional patients with Pierpont syndrome.
To better understand the phenotypic spectrum of this rare condition.

Main Methods:

Retrospective review of patient data.
Clinical assessment of facial characteristics, hand, and foot findings.
Analysis of genetic data from high-resolution array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) array.

Main Results:

Identified patients with distinctive shared facial characteristics, plantar fat pads, and limb abnormalities.
Noted striking hand and foot findings in some patients.
Etiology remains unknown despite genetic analyses.

Conclusions:

Pierpont syndrome appears to be a recognizable condition with typical facies, especially when smiling, and characteristic hand/foot findings.
Further research is needed to elucidate the genetic etiology.
Distinguishing typical Pierpont syndrome from similar phenotypes is crucial.