Potocki-Shaffer syndrome

What is Potocki-Shaffer syndrome?

Potocki-Shaffer syndrome is a rare genetic syndrome that affects the bones, brain tissue, and other tissues in the body. The syndrome also presents with multiple, non-cancerous bone tumors that very rarely become cancerous. There are currently less than 100 reported cases of the syndrome reported worldwide. It is also known as proximal 11p deletion syndrome.

This syndrome is also known as:
Chromosome 11p11.2 Deletion Syndrome; Defect11 Syndrome; Potocki-Shaffer syndrome; Proximal 11p Deletion Syndrome; P11PDS; PSS; Shaffer-Potocki syndrome

What gene changes cause Potocki-Shaffer syndrome?

The syndrome is caused by the deletion of genetic material at the short arm of chromosome 11. This deletion causes the symptoms of the syndrome. The deletion of the specific genes, EXT2, ALX4, and PHF21A, causes specific symptoms associated with the syndrome.

The syndrome can be inherited in an autosomal dominant pattern of inheritance. But in most cases, it is the result of a de novo mutation that occurs during the process of reproduction.

What are the main symptoms of Potocki-Shaffer syndrome?

  • The main symptoms of the syndrome include the development of noncancerous bone tumors, known as osteochondromas. Very rarely do these tumors become cancerous.
  • Individuals with the syndrome also have abnormal openings on the top of the skulls. These create an extra soft spot on the head which does not close as the ones all infants are born with do.
    Intellectual disability as well as delayed development is also a main symptom of the syndrome. Individuals also tend to have delayed social skills as well.
  • Distinct facial characteristics of the syndrome consist of a broad, short skull, a prominent forehead, a narrow nose bridge, a shorter philtrum, and a downturned mouth.

Possible clinical traits/features:
Seizure, Single transverse palmar crease, Parietal foramina, Underdeveloped nasal alae, Broad forehead, High forehead, Cognitive impairment, Decreased skull ossification, Epicanthus, Exostoses, Downslanted palpebral fissures, Turricephaly, Downturned corners of mouth, Cutaneous syndactyly between fingers 2 and 5, Craniofacial dysostosis, Brachydactyly, Short philtrum, Telecanthus, Contiguous gene syndrome, Wormian bones, Micropenis, Intellectual disability, Muscular hypotonia, Multiple exostoses, Short nose, Sparse lateral eyebrow, Wide nasal bridge, Brachycephaly.

How is it diagnosed?

To find out if someone has a diagnosis of Potocki-Schffer syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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