Saito Kuba Tsuruta syndrome
Other Names: Fibulo ulnar hypoplasia renal anomalies; Fibuloulnar aplasia or hypoplasia with renal abnormalities
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies.
Epidemiology[edit | edit source]
It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure).
Inheritance[edit | edit source]
It is transmitted as an autosomal recessive trait.
Signs and symptoms[edit | edit source]
Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney.
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
- Aplasia of the proximal phalanges of the hand(Absent innermost bones)
- Aplasia/Hypoplasia of the fibula(Absent/small calf bone)
- Depressed nasal bridge(Depressed bridge of nose)
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Finger syndactyly
- Frontal bossing
- Hypertelorism(Wide-set eyes)
- Hypoplasia of the ulna(Underdeveloped inner large forearm bone)
- Micrognathia(Little lower jaw)
- Polyhydramnios(High levels of amniotic fluid)
- Premature birth(Premature delivery of affected infants)
- Protruding ear(Prominent ear)
- Wide nasal bridge(Broad nasal bridge)
5%-29% of people have these symptoms
- Abnormality of mesentery morphology
- Cryptorchidism(Undescended testes)
- Hypoplasia of penis(Underdeveloped penis)
- Renal hypoplasia(Small kidneys)
- Shawl scrotum(Scrotum surrounds penis)
- Single umbilical artery(Only one artery in umbilical cord instead of two)
- Ventricular septal defect(Hole in heart wall separating two lower heart chambers)
NIH genetic and rare disease info[edit source]
Saito Kuba Tsuruta syndrome is a rare disease.
| Saito Kuba Tsuruta syndrome Resources | |
|---|---|
|
 |
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
