Trichorhinophalangeal syndrome type 2
Overview
A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
Symptoms
* Growth deficiency * Mental deficiency * Delayed speech onset * Hearing impairment * Small head * Large ears * Sticking out ears * Heavy eyebrows * Deep set eyes * Large nose * Bulbous nose * Thickened nostrils * Thickened nasal septum * Dorsally tented nostrils * Broad nose bridge * Simple philtrum * Elongated philtrum * Thin upper lip * Recessed mandible * Sparse scalp hair * Loose excess infant skin * Maculopapular nevi * Cone-shaped epiphyses of hand * Bony growths on hand bones * Hand bone abnormalities * Bony growths on long tubular bones * Rib exostoses * Scapula exostoses * Pelvic bone exosteses * Exostoses * Segmentation defects of vertebrae * Scoliosis * Narrow posterior ribs * Winged scapulae * Syndactyly * Lax joints * Reduced muscle tone * Exotropia * Recurrent upper respiratory tract infections * Malocclusion * Dental abnormalities
Diagnosis
signs and symptoms of Trichorhinophalangeal syndrome type 2 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 2 symptoms.