MCID: ULN024
MIFTS: 19

Ulnar/fibular Ray Defect and Brachydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ulnar/fibular Ray Defect and Brachydactyly

MalaCards integrated aliases for Ulnar/fibular Ray Defect and Brachydactyly:

Name: Ulnar/fibular Ray Defect and Brachydactyly 57 6
Ulnar/fibula Ray Defect-Brachydactyly Syndrome 58
Morava-Mehes Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ulnar/fibula ray defect-brachydactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ulnar/fibular ray defect and brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608571
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 71 C1837830
Orphanet 58 ORPHA52056
MedGen 41 C1837830

Summaries for Ulnar/fibular Ray Defect and Brachydactyly

MalaCards based summary : Ulnar/fibular Ray Defect and Brachydactyly, also known as ulnar/fibula ray defect-brachydactyly syndrome, is related to ulnar-mammary syndrome and ulnar hypoplasia. An important gene associated with Ulnar/fibular Ray Defect and Brachydactyly is RP1L1 (RP1 Like 1). Affiliated tissues include breast, and related phenotypes are short stature and brachydactyly

More information from OMIM: 608571

Related Diseases for Ulnar/fibular Ray Defect and Brachydactyly

Diseases related to Ulnar/fibular Ray Defect and Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ulnar-mammary syndrome 10.3
2 ulnar hypoplasia 10.3
3 brachydactyly 10.3
4 hemangioma 10.3

Symptoms & Phenotypes for Ulnar/fibular Ray Defect and Brachydactyly

Human phenotypes related to Ulnar/fibular Ray Defect and Brachydactyly:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
2 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
3 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
4 aplasia/hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0006495
5 short 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0009237
6 aplasia/hypoplasia of the fibula 58 31 frequent (33%) Frequent (79-30%) HP:0006492
7 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
8 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
9 hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001028
10 short foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001773
11 postaxial oligodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006210
12 frontal bossing 31 HP:0002007
13 prominent forehead 31 HP:0011220
14 growth delay 58 Very frequent (99-80%)
15 round face 31 HP:0000311
16 midface retrusion 31 HP:0011800
17 toe syndactyly 31 HP:0001770
18 lower limb asymmetry 31 HP:0100559
19 bilateral talipes equinovarus 31 HP:0001776
20 fibular hypoplasia 31 HP:0003038
21 unilateral ulnar hypoplasia 31 HP:0005036

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect

Skeletal Limbs:
fibular hypoplasia
unilateral ulnar hypoplasia
leg length discrepancy

Chest Breasts:
normal breast

Head And Neck Face:
prominent forehead
round face
midface hypoplasia

Skeletal Hands:
brachydactyly
postaxial oligodactyly (absent 4-5 fingers)

Skin Nails Hair Skin:
normal sweating
hemangioma (neck and forehead)

Skeletal Feet:
bilateral clubfeet
syndactyly (4-5 toes)

Clinical features from OMIM®:

608571 (Updated 20-May-2021)

Drugs & Therapeutics for Ulnar/fibular Ray Defect and Brachydactyly

Search Clinical Trials , NIH Clinical Center for Ulnar/fibular Ray Defect and Brachydactyly

Genetic Tests for Ulnar/fibular Ray Defect and Brachydactyly

Anatomical Context for Ulnar/fibular Ray Defect and Brachydactyly

MalaCards organs/tissues related to Ulnar/fibular Ray Defect and Brachydactyly:

40
Breast

Publications for Ulnar/fibular Ray Defect and Brachydactyly

Articles related to Ulnar/fibular Ray Defect and Brachydactyly:

# Title Authors PMID Year
1
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. 61 57
14564152 2003

Variations for Ulnar/fibular Ray Defect and Brachydactyly

ClinVar genetic disease variations for Ulnar/fibular Ray Defect and Brachydactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RP1L1 NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) SNV Likely pathogenic 265995 rs773440242 GRCh37: 8:10480384-10480384
GRCh38: 8:10622874-10622874

Expression for Ulnar/fibular Ray Defect and Brachydactyly

Search GEO for disease gene expression data for Ulnar/fibular Ray Defect and Brachydactyly.

Pathways for Ulnar/fibular Ray Defect and Brachydactyly

GO Terms for Ulnar/fibular Ray Defect and Brachydactyly

Sources for Ulnar/fibular Ray Defect and Brachydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....