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]