Synonyms
- TRPS2
- Langer-Giedion syndrome (LGS)
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 cartilaginous flap on the outer side of each nostril (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
TRPS2 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.
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.