Urban-Rogers-Meyer syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: URBAN-ROGERS-MEYER SYNDROME
Prader-Willi habitus - osteopenia - camptodactyly
Intellectual deficit - short stature - hand contractures - genital anomalies
Number of Symptoms 38
OrphanetNr: 3409
OMIM Id: 264010
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000078) Abnormality of the genital system 33 / 7739
3
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
4
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
5
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
6
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
 (HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
8
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
10
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
11
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
12
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Occasional [Orphanet] 41 / 7739
13
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
16
 (HPO:0009473) Joint contracture of the hand 84 / 7739
17
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
18
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
19
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
20
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
21
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
22
 (HPO:0010580) Enlarged epiphyses 14 / 7739
23
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
24
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
25
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
26
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
27
 (HPO:0000939) Osteoporosis 129 / 7739
28
 (HPO:0012385) Camptodactyly 113 / 7739
29
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
30
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
31
 (HPO:0000938) Osteopenia 138 / 7739
32
 (HPO:0001836) Camptodactyly of toe Very frequent [Orphanet] 27 / 7739
33
 (HPO:0003782) Eunuchoid habitus Frequent [Orphanet] 8 / 7739
34
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
35
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
36
 (OMIM) Tubulation defects and large epiphyses in hands and feet 1 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: