Synonyms
- TRPS2
- Langer-Giedion syndrome; Lgs
- Chromosome 8q24.1 Deletion syndrome
Trichorhinophalangeal 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
Hair
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
Trichorhinophalangeal syndrome, type 2 (TRPS2) or Langer-Giedion syndrome is best diagnosed by a geneticist with genetic testing.
Causes of TRPS2
TRPS2 is a contiguous gene syndrome caused by changes in the zinc finger transcription factor TRPS1 and the exostosin 1 gene.
Genetic Testing
Just like trichorhinophalangeal syndrome, type 1, there is a genetic test for TRPS2. Find more resources about genetic testing, including costs, benefits and risks from Genes In Life.
Inheritance
TRPS2 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 TRPS2 at Online Mendelian Inheritance in Man.