Potocki-Shaffer syndrome
Última actualización 7 Abr 2026
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Potocki-Shaffer syndrome is a disorder that affects the development of the bones, brain, and other tissues. The signs and symptoms of Potocki-Shaffer syndrome vary widely among affected individuals.
Descripción
Potocki-Shaffer syndrome is a disorder that affects the development of the bones, brain, and other tissues. The signs and symptoms of Potocki-Shaffer syndrome vary widely among affected individuals.
People with Potocki-Shaffer syndrome have enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. Openings in the parietal bones are normal during fetal development, but they usually close before birth. In people with this condition, the parietal foramina are larger than normal and may remain open after birth. Affected individuals often have a wide, short skull (brachycephaly). Their head size may be normal or unusually small.
Most people with Potocki-Shaffer syndrome have multiple noncancerous (benign) bone tumours called osteochondromas. In rare instances, these tumours become cancerous.
Other features of Potocki-Shaffer syndrome include intellectual disabilities, recurrent seizures (epilepsy), and delayed development of speech and motor skills (such as sitting and walking).
Many people with Potocki-Shaffer syndrome have distinctive facial features, such as a broad and tall forehead, a prominent bridge of the nose, a narrow distance between the nose and upper lip (a short philtrum), a short nose with a wide tip, and a downturned mouth.
Less commonly, Potocki-Shaffer syndrome causes vision problems; additional skeletal abnormalities; and defects in the heart, kidneys, and urinary tract.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Chromosome 11p11.2 deletion syndrome
P11pDS
Proximal 11p deletion syndrome
PSS
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Lecturas adicionales y referencias
- Potocki-Shaffer syndrome; MedlinePlus, National Library of Medicine.
- Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.
- Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.
- Poole RL, Bijlsma EK, Houge G, Jones G, Mikstiene V, Preiksaitiene E, Thompson L, Tatton-Brown K. The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients. Clin Dysmorphol. 2023 Apr 1;32(2):49-54. doi: 10.1097/MCD.0000000000000455. Epub 2023 Feb 21.
- Romeike BF, Wuyts W. Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature. Clin Neuropathol. 2007 Jan-Feb;26(1):1-11. doi: 10.5414/npp26001.
- Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245.
- Trajkova S, Di Gregorio E, Ferrero GB, Carli D, Pavinato L, Delplancq G, Kuentz P, Brusco A. New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788.
- Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O. Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. Eur J Hum Genet. 2004 May;12(5):400-6. doi: 10.1038/sj.ejhg.5201163.
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