Fibulo-ulnar hypoplasia-renal anomalies syndrome
Findings
No curated finding names Fibulo-ulnar hypoplasia-renal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). 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. It is transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0009233), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia of the proximal phalanges of the handHPOHP:0010242
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Short long boneHPOHP:0003026
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal mesentery morphologyHPOHP:0100016
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- Hypoplasia of penisHPOHP:0008736
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: Fibulo-ulnar hypoplasia-renal anomalies syndrome
- Also called
- Saito-Kuba-Tsuruta syndrome