miércoles, 12 de abril de 2017

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force | Orphanet Journal of Rare Diseases | Full Text

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force | Orphanet Journal of Rare Diseases | Full Text

Biomed Central

Orphanet Journal of Rare Diseases

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 and
  • Marco CrimiEmail author
Contributed equally
Orphanet Journal of Rare Diseases201712:69
DOI: 10.1186/s13023-017-0606-4
Received: 5 January 2017
Accepted: 1 March 2017
Published: 11 April 2017



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.


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.


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.


Ring14 syndrome Recommendations Caregivers Best practices

Human phenotype ontologies

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

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