Ulbright-Hodes syndrome
Findings
No curated finding names Ulbright-Hodes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009963), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Abnormal external genitalia morphologyHPOHP:0000811
- Frequent (30% to 79% of cases)
- Abnormal forearm bone morphologyHPOHP:0040072
- Frequent (30% to 79% of cases)
- Abnormal penis morphologyHPOHP:0000036
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the ulnaHPOHP:0006495
- Frequent (30% to 79% of cases)
Show the remaining 31
- Fibular aplasiaHPOHP:0002990
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Humeroradial synostosisHPOHP:0003041
- Frequent (30% to 79% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Frequent (30% to 79% of cases)
- Long upper lipHPOHP:0011341
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Ulbright-Hodes syndrome
- Also called
- renal dysplasia-limb defects syndromerenal dysplasia-mesomelia-radiohumeral fusion syndrome