urban-Rogers-Meyer syndrome
Findings
No curated finding names urban-Rogers-Meyer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
Definition from the Mondo Disease Ontology (MONDO:0009905), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Flexion contracture of toeHPOHP:0005830
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- Increased circulating IgE concentrationHPOHP:0003212
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Overfolded helixHPOHP:0000396
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: urban-Rogers-Meyer syndrome
- Also called
- intellectual disability-short stature-hand contractures-genital anomalies syndromePrader-Willi habitus-osteopenia-camptodactyly syndrome