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GOMBO Syndrome


Presentation

  • Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.[orpha.net]
  • Clinical data on Myhre syndrome patients are presented in table 1.[jmg.bmj.com]
  • The risk for this condition appears to increase with age and it usually presents in adolescence or young adulthood.[rarediseases.org]
  • Defensin-1, an antimicrobial peptide present in the saliva of patients with oral diseases Oral Dis, 5 (1999), pp. 139-142 [19.] Lamey P.J., Murray B.M., Eddie S.A., Freeman R.E.[elsevier.es]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
Pain
  • Pain and personality profiles in burning mouth syndrome Pain, 28 (1987), pp. 155-167 [8.] Browning S., Hislop S., Scully C., Shirlaw P.[elsevier.es]
Down Syndrome
  • Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. Res in Devel Disab. 2013;34:1572-80. [ Links ] 27. Mandolesi L, Addona F, Foti F, Manghini D, Petrosini L, Vicari S.[scielo.br]
Blurred Vision
  • Eye (ophthalmologic) abnormalities can develop including refraction abnormalities such as an inability to focus on close up objects (hypermetropia or farsightedness) or an imperfection in the curvature of the eye leading to blurred vision (astigmatism[rarediseases.org]
Memory Impairment
  • Working memory impairment in people with Williams syndrome: Effects of delay, task and stimuli. Brain and Cogn. 2009;69:495-503. [ Links ] 29. Carney DPJ, Brown JH, Henry LA. Executive function in Williams and Down syndromes. Res in.[scielo.br]
Sleep Disturbance
  • A multicenter, placebo-controlled trial of melatonin for sleep disturbance in Alzheimer's disease. Sleep Med. 2003;26(7):893-901. [ Links ] 16. Nováková M, Nevsímalová S, Prihodová I, Sládek M, Sumová A.[scielo.br]

Workup

Erythrocytosis
  • Balogh Letter to the editor – Hemochromatosis, erythrocytosis and the JAK2 p.V617F mutation. Stephen E. Langabeer Click aquí para descargar el PDF de la edición completa.[infobioquimica.com]

Treatment

  • Laryngotracheal stenosis may require surgical treatment. However, the condition may recur after successful treatment.[rarediseases.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Effectiveness of kampo medicine (sai-boku-to) in treatment of patients with glossodynia Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 86 (1998), pp. 682-686 [21.] Tammiala-Salonen T., Forssell H.[elsevier.es]

Prognosis

  • Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • This is considered to be a storage disease with progressive worsening and a poor prognosis.[jmg.bmj.com]

Epidemiology

  • ORPHA:2588 Synonym(s): Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q87.8 OMIM: 139210 UMLS: C0796081 MeSH: - GARD: 2572 MedDRA: - Summary Epidemiology[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Delvin Pediatric Metabolic Syndrome: pathophysiology and laboratory assessment. Victoria Higgins, Khosrow Adeli Pediatric reference intervals for biochemical markers: gaps and challenges, recent national initiatives and future perspectives. H.[infobioquimica.com]

Prevention

  • Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis.[rarediseases.org]

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