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

It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure).

Inheritance

Autosomal recessive inheritance, a 25% chance

It is transmitted as an autosomal recessive trait.

Signs and symptoms

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

• NIH info on Saito Kuba Tsuruta syndrome

Saito Kuba Tsuruta syndrome is a rare disease.

Saito Kuba Tsuruta syndrome Resources
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