Trichorhinophalangeal Syndrome, Type 1 (TRPS1) is a Rare Genetic Condition Characterized by the Following Symptoms and Features
- Short stature
- Normal birth length
- Mild growth deficiency
- Prominent, long vertical groove in the middle area above the upper lip (philtrum)
- Very small lower jaw (micrognathia)
- Horizontal groove on chin
- Large, prominent
- Thin eyebrows (laterally)
- Narrow palate
- Thin upper lip
- Carious (cavities, tooth decay)
- Not aligned properly (dental malocclusion)
- Late having teeth come in (delayed teeth eruption)
- Recurrent respiratory infections
- The shoulder blade, or shoulder bone, protrudes from a person’s back in an abnormal position (winged scapulae)
- Pectus carinatum (keel-shaped deformity of the chest, protrusion abnormalities of the anterior chest wall)
- Delayed bone age before puberty (slow bone growth)
- Accelerated bone age after puberty
- Osteopenia (late-onset) (lower than normal bone density)
- Osteoarthritis (late-onset)
- Joint pain (late-onset)
- Spine has a sideways curve. The curve is usually “S” or “C” shaped. (scoliosis)
- Excessive curvature of the lower back (lordosis)
- Deformities in the large bone in the leg/ femur
- Short and misshapen fingers
- Flat foot
- Short toes
- Spoon shaped
- White spots
- Slow growing
- Thin eyebrows
- Low muscle tone in infancy (hypotonia)
- Normal intelligence
Trichorhinophalangeal syndrome, type 1 is best diagnosed by a geneticist with genetic testing.
TRPS1 is caused by changes in the zinc finger transcription factor TRPS1.
There is a genetic test for TRPS1. Find more resources about genetic testing, including costs, benefits and risks from Genes In Life.
TRPS1 is inherited as an autosomal dominant disorder. An affected individual has a 50% chance of passing the TRPS1 gene to a son or daughter.
Learn more about TRPS1 at Online Mendelian Inheritance in Man.