Potocki-Shaffer Syndrome malady
Categories: Genetic diseases, Rare diseases, Fetal diseases
Aliases & Descriptions for Potocki-Shaffer Syndrome:
Orphanet epidemiological data:51
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: contiguous gene syndrome
Global: Genetic diseases, Rare diseases, Fetal diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Potocki-shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). the characteristic features of potocki-shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. in some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. the features of potocki-shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. in particular, the deletion of a gene called alx4 causes enlarged parietal foramina, while the loss of another gene, ext2, causes the multiple exostoses. another condition called wagr syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. individuals with such a deletion have signs and symptoms of both potocki-shaffer syndrome and wagr syndrome. a referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended. last updated: 9/22/2015
MalaCards based summary: Potocki-Shaffer Syndrome, also known as chromosome 11p11.2 deletion syndrome, is related to peeling skin syndrome 2 and osteogenesis imperfecta, type xvi, and has symptoms including exostoses, cognitive impairment and decreased skull ossification. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome). Affiliated tissues include bone, brain and heart.
UniProtKB/Swiss-Prot:67 Potocki-Shaffer syndrome: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
Genetics Home Reference:23 Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life.
OMIM:49 Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2... (601224) more...
Symptoms by clinical synopsis from OMIM:601224
Clinical features from OMIM:601224
HPO human phenotypes related to Potocki-Shaffer Syndrome:(show all 32)
Genetic tests related to Potocki-Shaffer Syndrome:
MalaCards organs/tissues related to Potocki-Shaffer Syndrome:33
Bone, Brain, Heart, Kidney, Colon, Breast
Articles related to Potocki-Shaffer Syndrome:(show all 11)
Search GEO for disease gene expression data for Potocki-Shaffer Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet