MCID: PRD014
MIFTS: 19

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 58 54 74
Urban-Rogers-Meyer Syndrome 58 77 54 60
Intellectual Disability-Short Stature-Hand Contractures-Genital Anomalies Syndrome 60
Prader-Willi Habitus-Osteopenia-Camptodactyly Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
urban-rogers-meyer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
prader-willi habitus, osteopenia, and camptodactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prader-Willi Habitus, Osteopenia, and Camptodactyly

NIH Rare Diseases : 54 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, is also known as urban-rogers-meyer syndrome. Affiliated tissues include bone, and related phenotypes are obesity and intellectual disability

Wikipedia : 77 Urban–Rogers–Meyer syndrome, also known as Prader–Willi habitus, osteopenia, and camptodactyly or Urban... more...

Description from OMIM: 264010

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

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

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

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
4 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
5 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
6 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
7 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
8 flexion contracture of toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0005830
9 increased circulating total ige level 33 hallmark (90%) HP:0003212
10 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
11 abnormality of epiphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005930
12 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
13 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
14 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
15 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
16 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
17 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
18 prominent nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000426
19 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
20 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
21 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
22 overfolded helix 60 33 frequent (33%) Frequent (79-30%) HP:0000396
23 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
24 abnormal diaphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000940
25 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
26 abnormality of the ureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000069
27 aplasia/hypoplasia of the earlobes 60 33 occasional (7.5%) Occasional (29-5%) HP:0009906
28 abnormality of the philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000288
29 osteopenia 33 HP:0000938
30 abnormality of the genital system 33 HP:0000078
31 increased ige level 60 Very frequent (99-80%)
32 camptodactyly 33 HP:0012385
33 joint contracture of the hand 33 HP:0009473
34 enlarged epiphyses 33 HP:0010580

Symptoms via clinical synopsis from OMIM:

58
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

MalaCards organs/tissues related to Prader-Willi Habitus, Osteopenia, and Camptodactyly:

42
Bone

Publications for Prader-Willi Habitus, Osteopenia, and Camptodactyly

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

# Title Authors Year
1
Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report. ( 3239569 )
1988

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

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10 dbSNP
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17 EFO
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20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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