Urban-Rogers-Meyer syndrome

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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 3239569
 Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report.
Pagnan NA, Gollop TR.
Am J Med Genet. 1988;31(4):787-92.
Osteopenia
Child Foot Deformities Genes, Recessive Homo sapiens Male Osteoporosis Prader-Willi Syndrome X Chromosome
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0002757 Recurrent fractures Very frequent (99-80%)
HP:0003212 Increased circulating total IgE level Very frequent (99-80%)
HP:0005830 Flexion contracture of toe Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000396 Overfolded helix Frequent (79-30%)
HP:0000426 Prominent nasal bridge Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000940 Abnormal diaphysis morphology Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001773 Short foot Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005930 Abnormality of epiphysis morphology Frequent (79-30%)
HP:0000069 Abnormality of the ureter Occasional (29-5%)
HP:0000288 Abnormality of the philtrum Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000938 Osteopenia 1
HP:0012385 Camptodactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID