Synonyms

TRPSI

Trichorhinophalangeal Syndrome, Type 1 (TRPS1) is a Rare Genetic Condition Characterized by the Following Symptoms and Features


GrowthA girl is affected by TRPS1.

  • Short stature
  • Normal birth length
  • Mild growth deficiency

Face

  • Prominent, long vertical groove in the middle area above the upper lip (philtrum)
  • Very small lower jaw (micrognathia)
  • Horizontal groove on chin

Ears

  • Large, prominent

Eyes

  • Thin eyebrows (laterally)

Nose

  • Pear-shaped

Mouth

  • Narrow palate
  • Thin upper lip

Teeth

  • Small
  • Carious (cavities, tooth decay)
  • Not aligned properly (dental malocclusion)
  • Late having teeth come in (delayed teeth eruption)

Respiratory

  • Recurrent respiratory infections

Chest

  • 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)

Skeletal

  • 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

  • Spine has a sideways curve. The curve is usually “S” or “C” shaped. (scoliosis)
  • Excessive curvature of the lower back (lordosis)

Pelvis

  • Deformities in the large bone in the leg/ femur

Hands

  • Short and misshapen fingers

Feet

  • Flat foot
  • Short toes

Nails

  • Thin
  • Spoon shaped
  • White spots

Hair

  • Sparse
  • Thin
  • Slow growing
  • Thin eyebrows

Neurological

  • Low muscle tone in infancy (hypotonia)
  • Normal intelligence

Voice

  • Deep 

 

Diagnosing

TRPS1 is best diagnosed by a geneticist with genetic testing.

Causes

TRPS1 is caused by mutations in the zinc finger transcription factor TRPS1.

Genetic Testing

There is a genetic test for TRPS1.

Inheritance

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.