Potocki-Shaffer Syndrome

Last update 08 May 2025

Basic Info

Synonyms

11p11.2 deletion, CHROMOSOME 11p11.2 DELETION SYNDROME, Chromosome 11p11.2 Deletion Syndrome

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Introduction

A very rare genetic syndrome caused by deletions on the proximal short arm of chromosome 11. It is characterized by the presence of multiple exostoses and enlarged parietal foramina.

Clinical Trials associated with Potocki-Shaffer Syndrome

NCT01793168

/ RecruitingNot Applicable

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Start Date01 Jul 2010

Sponsor / Collaborator

Sanford Health Corp.

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100 Clinical Results associated with Potocki-Shaffer Syndrome

100 Translational Medicine associated with Potocki-Shaffer Syndrome

0 Patents (Medical) associated with Potocki-Shaffer Syndrome

Literatures (Medical) associated with Potocki-Shaffer Syndrome

01 Nov 2024·Taiwanese Journal of Obstetrics and Gynecology

Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)

Article

Author: Wang, Wayseen ; Chen, Chen-Yu ; Wu, Peih-Shan ; Lee, Chen-Chi ; Pan, Yen-Ting ; Chen, Wen-Lin ; Chen, Chih-Ping ; Wu, Fang-Tzu

OBJECTIVEWe present prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis (CMA) in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11) (p11.2p13)ins(11) (q21p11.2p13) and maternal intrachromosomal insertion of ins(11) (q21p11.2p13).CASE REPORTA 25-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of a family history of psychiatric disorders in her two brothers and one maternal uncle. Array comparative genomic hybridization (aCGH) analysis of amniocentesis revealed a 14-Mb 11p13p11.2 deletion. The pregnancy was terminated at 19 weeks of gestation, and a 252-g fetus was delivered. Cytogenetic analysis of the parental bloods and cord blood revealed a karyotype of 46,XX,ins(11) (q21p11.2p13) in the mother, 46,XY in the father and 46,XY,rec(11)del(11) (p11.2p13)ins(11) (q21p11.2p13) in the fetus. aCGH analysis on the DNA extracted from cord blood revealed the result of arr 11p13q11.2 (32,697,424-46,712,173) × 1.0 [GRCh37] with a 14-Mb deletion of 11p13-p11.2 encompassing 54 OMIM genes including PHF21A, ALX4, EXT2 and SLC1A2. Polymorphic DNA marker analysis showed a maternal origin of the 11p deletion. The present case had an 11p13-p11.2 deletion encompassing 11p12-p11.3 which is associated with Potocki-Shaffer syndrome (PSS) or chromosome 11p11.2 deletion syndrome.CONCLUSIONCMA is useful for prenatal detection of fetal genomic imbalance in case of familial intrachromosomal insertion.

01 Apr 2023·Clinical Dysmorphology

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients

Article

Author: Jones, Gabriela ; Mikštienė, Violeta ; Thompson, Louise ; Tatton-Brown, Katrina ; Houge, Gunnar ; Poole, Rebecca L. ; Bijlsma, Emilia K. ; Preikšaitienė, Eglė

Potocki–Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A variants have previously been associated with a specific disorder that, whilst sharing some features of PSS, has notable differences. This study aims to expand the phenotype, particularly in relation to overgrowth, associated with PHF21A variants. Analysis of phenotypic data was undertaken on 13 individuals with PHF21A constitutional variants including four individuals described in the current series. Of those individuals where data were recorded, postnatal overgrowth was reported in 5/6 (83%). In addition, all had both an intellectual disability and behavioural issues. Frequent associations included postnatal hypotonia (7/11, 64%); and at least one afebrile seizure episode (6/12, 50%). Although a recognizable facial gestalt was not associated, subtle dysmorphic features were shared amongst some individuals and included a tall broad forehead, broad nasal tip, anteverted nares and full cheeks. We provide further insight into the emerging neurodevelopmental syndrome associated with PHF21A disruption. We present some evidence that PHF21A might be considered a new member of the overgrowth-intellectual disability syndrome (OGID) family.

01 Jan 2023·Pediatrics International

Potocki‐Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses

Article

Author: Yaga, Takeshi ; Kosaki, Rika ; Nakayama, Robert ; Ishiguro, Akira ; Iguchi, Akihiro

WAGR syndrome is a rare genetic syndrome characterized by Wilms tumor, aniridia, abnormal structure of the genitourinary system and growth, and intellectual disability.It is caused by the deletion of the 11p13 region on chromosome 11 that codes PAX6 and WT1. The causative gene regions of both syndromes are in close proximity, and in some patients, these two syndromes combine with each other, depending on the deletion size of the gene region.Potocki-Shaffer syndrome is also a rare genetic syndrome characterized by multiple exostoses, enlargement of the foramen magnum, craniofacial abnormalities, and ptosis.

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Potocki-Shaffer Syndrome

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