Trichorhinophalangeal syndrome type 3

Alternate names

TRPS 3; Sugio-Kajii Syndrome

Definition

Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.

Cause

RPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12.

Inheritance

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

TRPS3 is inherited in an autosomal dominant manner.

Signs and symptoms

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

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

NIH genetic and rare disease info

• NIH info on Trichorhinophalangeal syndrome type 3

Trichorhinophalangeal syndrome type 3 is a rare disease.

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