Pseudoleprechaunism syndrome, Patterson type

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 7277424
 The Patterson syndrome, leprechaunism, and pseudoleprechaunism.
David TJ, Webb BW, Gordon IR.
J Med Genet. 1981;18(4):294-8.
Diabetes mellitus Skeletal dysplasia
Bone Diseases, Developmental Child Cutis Laxa Differential Diagnosis Females Homo sapiens Intellectual Disability Phenotype Pigmentation Disorders Syndrome Terminology as Topic
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000015 Bladder diverticulum Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000819 Diabetes mellitus Very frequent (99-80%)
HP:0001007 Hirsutism Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0001386 Joint swelling Very frequent (99-80%)
HP:0001833 Long foot Very frequent (99-80%)
HP:0002069 Generalized tonic-clonic seizures Very frequent (99-80%)
HP:0002684 Thickened calvaria Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0003180 Flat acetabular roof Very frequent (99-80%)
HP:0003310 Abnormality of the odontoid process Very frequent (99-80%)
HP:0004979 Metaphyseal sclerosis Very frequent (99-80%)
HP:0006505 Abnormality of limb epiphysis morphology Very frequent (99-80%)
HP:0007517 Palmoplantar cutis laxa Very frequent (99-80%)
HP:0007574 Generalized bronze hyperpigmentation Very frequent (99-80%)
HP:0008788 Delayed pubic bone ossification Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0012767 Abnormal placental size Very frequent (99-80%)
HP:0430005 Abnormality of ethmoid bone Very frequent (99-80%)
HP:0430028 Hyperplasia of the maxilla Very frequent (99-80%)
HP:3000077 Abnormal mandible condylar process morphology Very frequent (99-80%)
HP:0010819 Atonic seizures Frequent (79-30%)
HP:0012412 Premature adrenarche Frequent (79-30%)
HP:0030348 Increased circulating androgen level Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID