Trichorhinophalangeal syndrome type 1


A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses


* Growth deficiency * Pear-shaped nose * Prominent philtrum * Long philtrum * Narrow palate * Small lower jaw * Large ears * Prominent ears * Small teeth * Dental caries * Malocclusion * Horizontal chin groove * Sparse hair * Thin hair * Relative hypopigmentation * Thin nails * Short toes * Short fingers * Broad finger middle bones * Cone-shaped epiphyses * Broad toe middle bones * Split distal radial epiphyses * Winged scapulae


signs and symptoms of Trichorhinophalangeal syndrome type 1 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Trichorhinophalangeal syndrome type 1 symptoms.