MCID: PHC016
MIFTS: 19

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

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

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 56
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 58
Facioauriculoradial Dysplasia 56
Stoll-Levy-Francfort Syndrome 58
Stoll Levy Francfort Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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

MalaCards based summary : Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia, also known as phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome, is related to phocomelia ectrodactyly deafness sinus arrhythmia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. Affiliated tissues include bone, and related phenotypes are microtia and arrhythmia

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 phocomelia ectrodactyly deafness sinus arrhythmia 11.9
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3

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

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

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
3 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
4 abnormal nasal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005105
5 deep philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002002
6 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
7 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
8 stenosis of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000402
9 hypoplasia of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0003022
10 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
11 ectrodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100257
12 abnormality of the wrist 58 31 hallmark (90%) Very frequent (99-80%) HP:0003019
13 abnormality of the antitragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009896
14 abnormality of the nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0005288
15 ulnar bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0003031
16 short humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005792
17 upper limb phocomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009813
18 asymmetric radial dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006420
19 short 2nd metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010038
20 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
21 radial club hand 58 31 frequent (33%) Frequent (79-30%) HP:0004059
22 malar flattening 31 HP:0000272
23 short stature 31 HP:0004322
24 downslanted palpebral fissures 31 HP:0000494
25 midface retrusion 31 HP:0011800
26 elbow dislocation 31 HP:0003042
27 genu varum 31 HP:0002970
28 split hand 31 HP:0001171
29 radioulnar synostosis 31 HP:0002974
30 phocomelia 31 HP:0009829
31 shoulder dislocation 31 HP:0003834
32 absent radius 31 HP:0003974
33 fibular hypoplasia 31 HP:0003038
34 mesomelic arm shortening 31 HP:0005011
35 lateral clavicle hook 31 HP:0000895
36 long clavicles 31 HP:0000890
37 congenital earlobe sinuses 31 HP:0004461
38 anterior vertebral fusion 31 HP:0004557

Symptoms via clinical synopsis from OMIM:

56
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:
elbow dislocation
radioulnar synostosis
shoulder dislocation
absent radius
mesomelic arm shortening
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

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...

MalaCards organs/tissues related to Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia:

40
Bone

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). 61 56
7077621 1982
2
[Phocomelia-ectodactyly association. Ear malformations with deafness, sinus arrhythmia, does it constitute a new hereditary syndrome?]. 56
4447434 1974
3
Oculoauriculovertebral spectrum with radial anomaly in child. 61
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...

3 CDC
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10 dbSNP
11 DGIdb
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32 ICD10
33 ICD10 via Orphanet
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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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