Trichorhinophalangeal syndrome type 3
Alternate names[edit | edit source]
TRPS 3; Sugio-Kajii Syndrome
Definition[edit | edit source]
Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.
Cause[edit | edit source]
RPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12.
Inheritance[edit | edit source]
TRPS3 is inherited in an autosomal dominant manner.
Signs and symptoms[edit | edit source]
TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Bulbous nose
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Cone-shaped epiphysis(Cone-shaped end part of bone)
- Frontal bossing
- Long philtrum
- Long upper lip(Elongation of upper lip)
- Macrotia(Large ears)
- Micrognathia(Little lower jaw)
- Protruding ear(Prominent ear)
- Short distal phalanx of finger(Short outermost finger bone)
- Short metacarpal(Shortened long bone of hand)
- Short metatarsal(Short long bone of foot)
- Short stature(Decreased body height)
- Shortening of all phalanges of fingers(Shortening of all finger bones)
- Sparse and thin eyebrow(Thin, sparse eyebrows)
- Sparse eyelashes(Scant eyelashes)
- Triangular face(Face with broad temples and narrow chin)
30%-79% of people have these symptoms
- Avascular necrosis of the capital femoral epiphysis
- Camptodactyly of finger(Permanent flexion of the finger)
- Fragile nails(Brittle nails)
- High palate(Elevated palate)
- Hyperlordosis(Prominent swayback)
- Increased number of teeth(Extra teeth)
- Leukonychia(White discoloration of nails)
- Muscular hypotonia(Low or weak muscle tone)
- Pectus carinatum(Pigeon chest)
- Scoliosis
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Trichorhinophalangeal syndrome type 3 is a rare disease.
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