MCID: PRD014
MIFTS: 20

Prader-Willi Habitus, Osteopenia, and Camptodactyly

Categories: Bone diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Prader-Willi Habitus, Osteopenia, and Camptodactyly

MalaCards integrated aliases for Prader-Willi Habitus, Osteopenia, and Camptodactyly:

Name: Prader-Willi Habitus, Osteopenia, and Camptodactyly 57 53 72
Urban-Rogers-Meyer Syndrome 57 75 53 59
Intellectual Disability-Short Stature-Hand Contractures-Genital Anomalies Syndrome 59
Prader-Willi Habitus-Osteopenia-Camptodactyly Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
urban-rogers-meyer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
prader-willi habitus, osteopenia, and camptodactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 264010
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796189
Orphanet 59 ORPHA3409
MedGen 42 C0796189
UMLS 72 C0796189

Summaries for Prader-Willi Habitus, Osteopenia, and Camptodactyly

NIH Rare Diseases : 53 Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.

MalaCards based summary : Prader-Willi Habitus, Osteopenia, and Camptodactyly, also known as urban-rogers-meyer syndrome, is related to osteoporosis and bone mineral density quantitative trait locus 8. Related phenotypes are obesity and intellectual disability

Wikipedia : 75 Urban-Rogers-Meyer syndrome, also known as Prader-Willi habitus, osteopenia, and camptodactyly or Urban... more...

More information from OMIM: 264010

Related Diseases for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Diseases related to Prader-Willi Habitus, Osteopenia, and Camptodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteoporosis 10.4
2 bone mineral density quantitative trait locus 8 10.4
3 bone mineral density quantitative trait locus 15 10.4

Symptoms & Phenotypes for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Human phenotypes related to Prader-Willi Habitus, Osteopenia, and Camptodactyly:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
4 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
5 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
6 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
7 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
8 flexion contracture of toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0005830
9 increased circulating total ige level 32 hallmark (90%) HP:0003212
10 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
11 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
12 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
16 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
17 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
18 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
19 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
20 overfolded helix 59 32 frequent (33%) Frequent (79-30%) HP:0000396
21 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
22 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
23 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
24 abnormal diaphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000940
25 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
26 aplasia/hypoplasia of the earlobes 59 32 occasional (7.5%) Occasional (29-5%) HP:0009906
27 abnormality of the philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000288
28 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
29 osteopenia 32 HP:0000938
30 abnormality of the genital system 32 HP:0000078
31 camptodactyly 32 HP:0012385
32 increased ige level 59 Very frequent (99-80%)
33 enlarged epiphyses 32 HP:0010580
34 joint contracture of the hand 32 HP:0009473

Symptoms via clinical synopsis from OMIM:

57
Growth:
obesity
short stature

Limbs:
camptodactyly

G U:
genital anomalies

Radiology:
osteoporosis
tubulation defects and large epiphyses in hands and feet

Neuro:
mental retardation

Clinical features from OMIM:

264010

Drugs & Therapeutics for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Search Clinical Trials , NIH Clinical Center for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Genetic Tests for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Anatomical Context for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Publications for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Articles related to Prader-Willi Habitus, Osteopenia, and Camptodactyly:

# Title Authors PMID Year
1
Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report. 38 8
3239569 1988
2
Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. 8
758422 1979

Variations for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Expression for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Search GEO for disease gene expression data for Prader-Willi Habitus, Osteopenia, and Camptodactyly.

Pathways for Prader-Willi Habitus, Osteopenia, and Camptodactyly

GO Terms for Prader-Willi Habitus, Osteopenia, and Camptodactyly

Sources for Prader-Willi Habitus, Osteopenia, and Camptodactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....