MCID: PRD014
MIFTS: 19

Prader-Willi Habitus, Osteopenia, and Camptodactyly

Categories: Rare diseases, Bone diseases, Neuronal diseases, Fetal 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 53 49 69
Urban-Rogers-Meyer Syndrome 53 49 55
Intellectual Disability-Short Stature-Hand Contractures-Genital Anomalies Syndrome 55
Prader-Willi Habitus-Osteopenia-Camptodactyly Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
urban-rogers-meyer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
prader-willi habitus, osteopenia, and camptodactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prader-Willi Habitus, Osteopenia, and Camptodactyly

NIH Rare Diseases : 49 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. Last updated: 4/12/2016

MalaCards based summary : Prader-Willi Habitus, Osteopenia, and Camptodactyly, is also known as urban-rogers-meyer syndrome, and has symptoms including short neck, obesity and abnormality of epiphysis morphology.

Description from OMIM: 264010

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

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

Symptoms via clinical synopsis from OMIM:

53
Growth:
obesity
short stature

Limbs:
camptodactyly

GU:
genital anomalies

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

Neuro:
mental retardation


Clinical features from OMIM:

264010

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

55 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
2 obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001513
3 abnormality of epiphysis morphology 55 31 frequent (33%) Frequent (79-30%) HP:0005930
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
6 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
7 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
8 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
9 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
10 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
11 short foot 55 31 frequent (33%) Frequent (79-30%) HP:0001773
12 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
13 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
14 prominent nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000426
15 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
16 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
17 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
18 overfolded helix 55 31 frequent (33%) Frequent (79-30%) HP:0000396
19 recurrent fractures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002757
20 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
21 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
22 toe syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001770
23 abnormality of the ureter 55 31 occasional (7.5%) Occasional (29-5%) HP:0000069
24 flexion contracture of toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0005830
25 abnormal diaphysis morphology 55 31 frequent (33%) Frequent (79-30%) HP:0000940
26 aplasia/hypoplasia of the earlobes 55 31 occasional (7.5%) Occasional (29-5%) HP:0009906
27 abnormality of the philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000288
28 increased ige level 55 31 hallmark (90%) Very frequent (99-80%) HP:0003212
29 osteopenia 31 HP:0000938
30 abnormality of the genital system 31 HP:0000078
31 camptodactyly 31 HP:0012385
32 enlarged epiphyses 31 HP:0010580
33 joint contracture of the hand 31 HP:0009473

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....