| Disease ID | Source | Name | Description |
| 190350 | OMIM | Tricho-rhino-phalangeal syndrome 1 (TRPS1) | Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. The disease is caused by variants affecting the gene represented in this entry. |
| 190351 | OMIM | Tricho-rhino-phalangeal syndrome 3 (TRPS3) | Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. The disease is caused by variants affecting the gene represented in this entry. |
| 150230 | OMIM | Tricho-rhino-phalangeal syndrome 2 (TRPS2) | A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. |