pseudoleprechaunism syndrome, Patterson type
Findings
No curated finding names pseudoleprechaunism syndrome, Patterson type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
Definition from the Mondo Disease Ontology (MONDO:0008211), 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.
- Abnormal ethmoid bone morphologyHPOHP:0430005
- Very frequent (80% to 99% of cases)
- Abnormal limb epiphysis morphologyHPOHP:0006505
- Very frequent (80% to 99% of cases)
- Abnormal mandible condylar process morphologyHPOHP:3000077
- Very frequent (80% to 99% of cases)
- Abnormal odontoid process morphologyHPOHP:0003310
- Very frequent (80% to 99% of cases)
- Abnormal placental sizeHPOHP:0012767
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- HirsutismHPOHP:0001007
- Very frequent (80% to 99% of cases)
- Hyperplasia of the maxillaHPOHP:0430028
- Very frequent (80% to 99% of cases)
- Joint swellingHPOHP:0001386
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Large handsHPOHP:0001176
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: pseudoleprechaunism syndrome, Patterson type
- Also called
- Patterson syndrome