MCID: PRD014
MIFTS: 19

Prader-Willi Habitus, Osteopenia, and Camptodactyly

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Bone 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 73
Urban-Rogers-Meyer Syndrome 57 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:



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, is also known as urban-rogers-meyer syndrome. Related phenotypes are short neck and obesity

Wikipedia : 76 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

Symptoms via clinical synopsis from OMIM:

57
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:

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

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

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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