| umls-concept:C0265251 | skos:definition | JABL: A syndrome of distinctive facies with hypertelorism, prominent supraorbital ridges, and a broad nasal root (which give the patient a pugilistic appearance); conductive hearing loss (believed to be the cause of slow speech development); retarded bone development with short stature; abnormal fingers and toes; cleft palate; and generalized bone dysplasia. Facial features are more variable and mild in females than those in males and consist mostly of overhanging brow, hypertelorism, depressed nasal bridge, flat facies, and depressed bridge of the nose. Most male patients have mild mental retardation. | lld:umls |
