MCID: PHC016
MIFTS: 15

Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia

Categories: Ear diseases
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Aliases & Classifications for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia:

Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 57
Facioauriculoradial Dysplasia 57
Stoll Levy Francfort Syndrome 71

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



Summaries for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

MalaCards based summary: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia, also known as facioauriculoradial dysplasia, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. Related phenotypes are microtia and short stature

More information from OMIM: 171480

Related Diseases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Diseases related to Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1

Symptoms & Phenotypes for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Human phenotypes related to Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia:

30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 30 HP:0008551
2 short stature 30 HP:0004322
3 arrhythmia 30 HP:0011675
4 downslanted palpebral fissures 30 HP:0000494
5 conductive hearing impairment 30 HP:0000405
6 long philtrum 30 HP:0000343
7 split hand 30 HP:0001171
8 malar flattening 30 HP:0000272
9 radioulnar synostosis 30 HP:0002974
10 genu varum 30 HP:0002970
11 elbow dislocation 30 HP:0003042
12 midface retrusion 30 HP:0011800
13 stenosis of the external auditory canal 30 HP:0000402
14 aplasia/hypoplasia of the thumb 30 HP:0009601
15 phocomelia 30 HP:0009829
16 absent radius 30 HP:0003974
17 mesomelic arm shortening 30 HP:0005011
18 fibular hypoplasia 30 HP:0003038
19 ulnar bowing 30 HP:0003031
20 short humerus 30 HP:0005792
21 lateral clavicle hook 30 HP:0000895
22 shoulder dislocation 30 HP:0003834
23 asymmetric radial dysplasia 30 HP:0006420
24 short 2nd metacarpal 30 HP:0010038
25 long clavicles 30 HP:0000890
26 anterior vertebral fusion 30 HP:0004557

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Ears:
microtia
conductive hearing loss
absent stapedial reflex
external auditory canal stenosis

Head And Neck Face:
long philtrum
midface hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
long clavicles
hook-shaped clavicle

Head And Neck Eyes:
downslanting palpebral fissures

Cardiovascular Heart:
sinus arrhythmia

Growth Height:
short stature

Skeletal Limbs:
radioulnar synostosis
elbow dislocation
absent radius
mesomelic arm shortening
ulnar bowing
more
Skeletal Spine:
anterior vertebral fusion
posterior wedging

Neurologic Central Nervous System:
normal intelligence

Skeletal Hands:
hypoplastic to aplastic thumbs
rudimentary 2nd metacarpal
club hand
absent second finger

Clinical features from OMIM®:

171480 (Updated 24-Oct-2022)

Drugs & Therapeutics for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Search Clinical Trials, NIH Clinical Center for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia

Genetic Tests for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Anatomical Context for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Publications for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Articles related to Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia:

# Title Authors PMID Year
1
Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia). 62 57
7077621 1982
2
[Phocomelia-ectodactyly association. Ear malformations with deafness, sinus arrhythmia, does it constitute a new hereditary syndrome?]. 57
4447434 1974
3
Oculoauriculovertebral spectrum with radial anomaly in child. 62
24479055 2013

Variations for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Expression for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Search GEO for disease gene expression data for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia.

Pathways for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

GO Terms for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

Sources for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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