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.
| This article is a stub. You can help WikiMD by registering to expand it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
