MCID: BRC090
MIFTS: 17

Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

MalaCards integrated aliases for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia:

Name: Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 57 20
Fibular Aplasia Ectrodactyly 20 70
Fibular Aplasia-Ectrodactyly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
fibular aplasia-ectrodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable expressivity
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 113310
MESH via Orphanet 45 C537930
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 71 C1862100
Orphanet 58 ORPHA1118
MedGen 41 C1862100
UMLS 70 C1862100

Summaries for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

OMIM® : 57 Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia is a rare disorder that appears to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression (Evans et al., 2002). A form of fibular hypoplasia/aplasia associated with oligosyndactyly and tibial campomelia has been reported (FATCO syndrome; 246570). Split-hand/foot malformation associated with tibial hypoplasia/aplasia has also been described (see SHFLD1, 119100). (113310) (Updated 20-May-2021)

MalaCards based summary : Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia, is also known as fibular aplasia ectrodactyly. Related phenotypes are premature birth and abnormality of the ulna

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1118 Definition A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.

Related Diseases for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Symptoms & Phenotypes for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Human phenotypes related to Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
2 abnormality of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0002997
3 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
4 aplasia/hypoplasia of the fibula 58 31 frequent (33%) Frequent (79-30%) HP:0006492
5 brachydactyly 31 HP:0001156
6 fibular aplasia 31 HP:0002990
7 short phalanx of finger 31 HP:0009803
8 split foot 31 HP:0001839

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Limbs:
fibular aplasia/hypoplasia
ulnar aplasia/hypoplasia

Skeletal Feet:
ectrodactyly of feet

Skeletal Hands:
hypoplastic phalanges of hands
split-hand malformation

Clinical features from OMIM®:

113310 (Updated 20-May-2021)

Drugs & Therapeutics for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Search Clinical Trials , NIH Clinical Center for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Genetic Tests for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Anatomical Context for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Publications for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Articles related to Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia:

# Title Authors PMID Year
1
Fibular aplasia with ectrodactyly--broadening the clinical spectrum. 61 57
16473314 2006
2
Ectrodactyly with fibular aplasia: a separate entity? 57
18547886 2008
3
Fibular aplasia with ectrodactyly. 57
12400066 2002
4
Some underlooked properties of the multifactorial/threshold model. 57
9545400 1998
5
Monozygotic twins discordant for fibular aplasia. 57
1663703 1991
6
Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity. 57
2178076 1990
7
[Hereditary transmission of aplasia of the fibula, and of ectrodactyly. Study of a family]. 57
5994965 1966
8
Split-hand with unusual complications. 57
14361393 1955
9
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. 61
19012338 2008

Variations for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Expression for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Search GEO for disease gene expression data for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia.

Pathways for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

GO Terms for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

Sources for Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia

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
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