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
TRPS1 is best diagnosed by a geneticist with genetic testing.
TRPS1 is caused by mutations in the zinc finger transcription factor TRPS1.
There is a genetic test for TRPS1.
TRPS1 is inherited as an autosomal dominant disorder. An affected individual has a 50% chance of passing the gene to a son or daughter.
Learn more about TRPS1 at Online Mendelian Inheritance in Man.