CLAPO Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH, CLAPO, CLAPO (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome

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Introduction

A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known.

100 Clinical Results associated with CLAPO Syndrome

100 Translational Medicine associated with CLAPO Syndrome

0 Patents (Medical) associated with CLAPO Syndrome

Literatures (Medical) associated with CLAPO Syndrome

01 Oct 2024·JAMA Dermatology

CLAPO Syndrome

Article

Author: Gelles, Lisa ; Tran, Andrew X.

A 1-day-old, healthy, full-term boy born by cesarean delivery for placental abruption to a 31-year-old primigravid mother was noted at birth to have an erythematous patch on his lower lip.

01 Mar 2024·American Journal of Medical Genetics Part A

Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach

Article

Author: Cuillerier, Alexanne ; Guerin, Andrea ; Cytrynbaum, Cheryl ; Bernier, Francois P ; de Kock, Leanne ; Armour, Christine M ; Scott, James N ; Thomas, Maryann ; Harvey, Shirley ; Nikkel, Sarah M ; Boycott, Kym M ; Gillespie, Meredith ; Kernohan, Kristin D ; Lauzon, Julie ; Mears, Wendy ; Frosk, Patrick ; Weksberg, Rosanna ; Innes, A Micheil ; Couse, Madeline ; Hartley, Taila ; Watkins, Debra ; Chudley, Albert E

AbstractActivating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early‐onset segmental/focal overgrowth, now referred to as PIK3CA‐related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including CLOVES syndrome, dysplastic megalencephaly, hemimegalencephaly, focal cortical dysplasia, Klippel–Trenaunay syndrome, CLAPO syndrome, fibroadipose hyperplasia or overgrowth, hemihyperplasia multiple lipomatosis, and megalencephaly capillary malformation‐polymicrogyria (MCAP) syndrome. MCAP is a sporadic overgrowth disorder that exhibits core features of progressive megalencephaly, vascular malformations, distal limb malformations, cortical brain malformations, and connective tissue dysplasia. In 2012, our research group contributed to the identification of predominantly mosaic, gain‐of‐function variants in PIK3CA as an underlying genetic cause of the syndrome. Mosaic variants are technically more difficult to detect and require implementation of more sensitive sequencing technologies and less stringent variant calling algorithms. In this study, we demonstrated the utility of deep sequencing using the Illumina TruSight Oncology 500 (TSO500) sequencing panel in identifying variants with low allele fractions in a series of patients with PROS and suspected mosaicism: pathogenic, mosaic PIK3CA variants were identified in all 13 individuals, including 6 positive controls. This study highlights the importance of screening for low‐level mosaic variants in PROS patients. The use of targeted panels with deep sequencing in clinical genetic testing laboratories would improve diagnostic yield and accuracy within this patient population.

01 Apr 2023·Anales de pediatria

Capillary malformation of the lower lip: CLAPO syndrome.

Article

Author: Moreno Alfonso, Julio César ; San Basilio Berenguer, María ; López Gutiérrez, Juan Carlos ; Triana Junco, Paloma Elena

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CLAPO Syndrome

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