Rhizomelic syndrome, Urbach type
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
RHIZOMELIC DYSPLASIA, FAMILIAL
|
|
Number of Symptoms
|
33
|
|
OrphanetNr:
|
3098
|
|
OMIM Id:
|
268250
|
|
ICD-10:
|
Q87.1
|
|
UMLs:
|
C1849382
|
|
MeSH:
|
C537611
|
|
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:
|
Mesomelic and rhizo-mesomelic dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
5
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
6
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0009943)
|
Complete duplication of thumb phalanx |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
9
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
11
|
(HPO:0002815)
|
Abnormality of the knee |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
12
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
13
|
(HPO:0001199)
|
Triphalangeal thumb |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0009811)
|
Abnormality of the elbow |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
16
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
17
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
18
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
19
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
20
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
21
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
22
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
23
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
24
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
25
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
26
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
27
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
28
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
30
|
(HPO:0001061)
|
Acne |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
31
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |