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]
Entire Body System
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Disability
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]
Intellectual disability may present at birth, but is usually not detected until the infant is old enough to respond to clinical testing. [rarediseases.org]
Motor development was normal but later learning disabilities were noted at school. When he was 9 years old hearing loss was suspected and confirmed by audiogram. Hearing improved with bilateral hearing aids. [jmg.bmj.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]
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]