MCID: WYR003
MIFTS: 15

Weyers Ulnar Ray/oligodactyly Syndrome

Categories: Rare diseases

Aliases & Classifications for Weyers Ulnar Ray/oligodactyly Syndrome

MalaCards integrated aliases for Weyers Ulnar Ray/oligodactyly Syndrome:

Name: Weyers Ulnar Ray/oligodactyly Syndrome 56 52
Weyers Ulnar Ray-Oligodactyly Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
weyers ulnar ray/oligodactyly syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Weyers Ulnar Ray/oligodactyly Syndrome

MalaCards based summary : Weyers Ulnar Ray/oligodactyly Syndrome, is also known as weyers ulnar ray-oligodactyly syndrome. Affiliated tissues include bone, spleen and kidney, and related phenotypes are cleft palate and high palate

More information from OMIM: 602418

Related Diseases for Weyers Ulnar Ray/oligodactyly Syndrome

Symptoms & Phenotypes for Weyers Ulnar Ray/oligodactyly Syndrome

Human phenotypes related to Weyers Ulnar Ray/oligodactyly Syndrome:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 high palate 31 HP:0000218
3 micrognathia 31 HP:0000347
4 narrow face 31 HP:0000275
5 cleft upper lip 31 HP:0000204
6 hydronephrosis 31 HP:0000126
7 long face 31 HP:0000276
8 hypotelorism 31 HP:0000601
9 proximal placement of thumb 31 HP:0009623
10 single median maxillary incisor 31 HP:0006315
11 hypoplasia of the radius 31 HP:0002984
12 hand oligodactyly 31 HP:0001180
13 aplasia/hypoplasia of the ulna 31 HP:0006495
14 absent thumb 31 HP:0009777
15 mesomelia 31 HP:0003027
16 proximal radial head dislocation 31 HP:0005070

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Head And Neck Eyes:
hypotelorism

Skeletal Limbs:
mesomelia
proximal radial head dislocation
short radii
ulnar hypoplasia/aplasia

Head And Neck Face:
long, narrow face

Genitourinary Kidneys:
hydronephrosis

Skeletal Hands:
oligodactyly
absent thumb
proximally placed thumb

Skeletal Skull:
hypoplastic mandible

Head And Neck Teeth:
single central upper incisor

Clinical features from OMIM:

602418

Drugs & Therapeutics for Weyers Ulnar Ray/oligodactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Weyers Ulnar Ray/oligodactyly Syndrome

Genetic Tests for Weyers Ulnar Ray/oligodactyly Syndrome

Anatomical Context for Weyers Ulnar Ray/oligodactyly Syndrome

MalaCards organs/tissues related to Weyers Ulnar Ray/oligodactyly Syndrome:

40
Bone, Spleen, Kidney

Publications for Weyers Ulnar Ray/oligodactyly Syndrome

Articles related to Weyers Ulnar Ray/oligodactyly Syndrome:

# Title Authors PMID Year
1
Weyers' ulnar ray/oligodactyly syndrome. 61 56
8326504 1993
2
Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects. 61 56
1404297 1992
3
Lethal form of fibuloulnar A/hypoplasia with renal abnormalities. 56
2773984 1989
4
de la Chapelle dysplasia. 56
3799721 1986
5
Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis). 56
3895927 1985
6
[A rare lethal bone dysplasia with recessive autosomic transmission]. 56
4644462 1972
7
AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS. 56
14074326 1963
8
[The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen]. 56
13509419 1957
9
A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation: case report. 61
22029164 2011

Variations for Weyers Ulnar Ray/oligodactyly Syndrome

Expression for Weyers Ulnar Ray/oligodactyly Syndrome

Search GEO for disease gene expression data for Weyers Ulnar Ray/oligodactyly Syndrome.

Pathways for Weyers Ulnar Ray/oligodactyly Syndrome

GO Terms for Weyers Ulnar Ray/oligodactyly Syndrome

Sources for Weyers Ulnar Ray/oligodactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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