Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force

Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi

Research output: Contribution to journalReview articlepeer-review


Background: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion: Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.

Original languageEnglish
Article number69
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - Apr 11 2017


  • Abnormality of retinal pigmentation
  • Abnormality of skin pigmentation
  • Abnormality of the corpus callosum
  • Abnormality of the eye
  • Abnormality of the face
  • Abnormality of the immune system
  • Abnormality of the retina
  • Abnormality of vision
  • Absent speech
  • Aggressive behavior
  • Anorexia
  • Arthritis
  • Aspiration
  • Astigmatism
  • Autism
  • Autistic behavior
  • Autoimmunity
  • Behavioral abnormality
  • Best practices
  • Blepharophimosis
  • Brain atrophy
  • Cafe-au-lait spot
  • Caregivers
  • Cataract
  • Celiac disease
  • Coloboma
  • Constipation
  • Dehydration
  • Diaphragmatic weakness
  • Downslanted palpebral fissures
  • Dysphagia
  • Encephalopathy
  • Epicanthus
  • Facial asymmetry
  • Feeding difficulties
  • Fever
  • Flexion contracture
  • Focal seizures
  • Focal seizures with impairment of consciousness or awareness
  • Full cheeks
  • Glaucoma
  • Global developmental delay
  • Growth delay
  • Hearing impairment
  • Horizontal eyebrow
  • Hyperactivity
  • Hypertelorism
  • Increased body weight
  • Intellectual disability
  • Large forehead
  • Malnutrition
  • Microcephaly
  • Microphthalmia
  • Milia
  • Muscular hypotonia
  • Myoclonus
  • Myopia
  • Optic neuropathy
  • Osteopenia
  • Osteoporosis
  • Pain
  • Pallor
  • Pneumonia
  • Recommendations
  • Recurrent infections
  • Recurrent pneumonia
  • Recurrent upper respiratory tract infections
  • Respiratory failure
  • Respiratory insufficiency
  • Respiratory tract infection
  • Retinal degeneration
  • Ring14 syndrome
  • Scoliosis
  • Seizures
  • Short stature
  • Status epilepticus
  • Stereotypy
  • Strabismus
  • Thin vermilion border
  • Underdeveloped supraorbital ridges
  • Ventriculomegaly

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)


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