A woman is affected by TRPS2.Synonyms

  • TRPS 2
  • Langer-Giedion Syndrome; Lgs
  • Chromosome 8q24.1 Deletion Syndrome

Trichorhinopalangeal Syndrome, Type 2 (TRPS2) is a Rare Genetic Condition Characterized by


Height

  • Postnatal onset of mild growth retardation (after birth)

Head

  • Small head (microcephaly)

Ears

  • Hearing loss
  • Large protruding ears

Eyes

  • Deep-set eyes
  • Deviate outward (exotropia)

Nose

  • Large, red and bulb-shaped (bulbous)
  • Broad nasal bridge
  • Tented, thickened cartilaginousflap on theouterside of eachnostril (alae nasi)
  • Prominent vertical groove in the middle area above the upper lip (philtrum)

Respiratory

  • Recurrent respiratory infections

Chest

  • Extra bone growth (exostoses) on rib
  • Extra bone growth on the shoulder blade (scapulae exostoses)
  • Shoulder blade, or shoulder bone, protrudes from a person’s back in an abnormal position (winged scapulae)

Genitourinary

  • Collection of watery fluid in the uterus and vagina (hydrometrocolpos)
  • Backward flow of urine from the bladder into the kidneys (ureteral reflux)

Spine

  • Spine has a sideways curve, usually “S” or “C” shaped. (scoliosis)

Limbs

  • Hyperextensible joints
  • Prone to fractures
  • Formation of new bone on the surface of a bone (exostoses of long bones)

Hands

  • Misshapen fingers
  • Fused fingers (syndactyly

Skin

  • Extra skin in infancy
  • Moles

Nails

  • Brittle

Hair

  • Sparse

Neurological

  • Mental and cognitive disabilities
  • Delayed speech development
  • Floppy muscles/low muscle tone (hypotonia)

Miscellaneous

  • Majority of cases are new spontaneous mutations
  • Predominantly male cases 

 

Diagnosing TRPS2

TRPS2 is best diagnosed by a geneticist with genetic testing.

Causes of TRPS2

TRPS2 is a contiguous gene syndrome caused by mutations in the zinc finger transcription factor TRPS1 and the exostosin 1 gene 

Genetic Testing

There is a genetic test for TRPS2.

Inheritance

TRPS2 is inherited as an autosomal dominant disorder. An affected individual has a 50% change of passing the gene to a son or daughter.

Learn more about TRPS2 at Online Mendelian Inheritance in Man.