MCID: PRD014
MIFTS: 18

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 54 50 69
Urban-Rogers-Meyer Syndrome 50 56
Intellectual Disability-Short Stature-Hand Contractures-Genital Anomalies Syndrome 56
Prader-Willi Habitus-Osteopenia-Camptodactyly Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
urban-rogers-meyer syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
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 : 50 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 stature, strabismus and micrognathia.

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:

54

Growth:
short stature
obesity

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

GU:
genital anomalies

Neuro:
mental retardation

Limbs:
camptodactyly


Clinical features from OMIM:

264010

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

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
4 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
5 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
6 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
7 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
8 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 recurrent fractures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002757
10 toe syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001770
11 hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000135
12 obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001513
13 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
14 prominent nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000426
15 overfolded helix 56 32 frequent (33%) Frequent (79-30%) HP:0000396
16 hypoplasia of penis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008736
17 abnormality of epiphysis morphology 56 32 frequent (33%) Frequent (79-30%) HP:0005930
18 short foot 56 32 frequent (33%) Frequent (79-30%) HP:0001773
19 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
20 upslanted palpebral fissure 56 32 frequent (33%) Frequent (79-30%) HP:0000582
21 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
22 abnormality of the ureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000069
23 flexion contracture of toe 56 32 hallmark (90%) Very frequent (99-80%) HP:0005830
24 abnormal diaphysis morphology 56 32 frequent (33%) Frequent (79-30%) HP:0000940
25 aplasia/hypoplasia of the earlobes 56 32 occasional (7.5%) Occasional (29-5%) HP:0009906
26 abnormality of the philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000288
27 increased ige level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003212
28 brachydactyly 32 frequent (33%) HP:0001156
29 camptodactyly 32 HP:0012385
30 osteopenia 32 HP:0000938
31 brachydactyly syndrome 56 Frequent (79-30%)
32 abnormality of the genital system 32 HP:0000078
33 enlarged epiphyses 32 HP:0010580
34 joint contracture of the hand 32 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

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16 ExPASy
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30 HGMD
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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