Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PHC016 MIFTS: 19	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Ear diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 171480

ICD10 via Orphanet ³³ Q87.2

UMLS via Orphanet ⁷² C1868390

Orphanet ⁵⁸ ORPHA2878

MedGen ⁴¹ C1868390

UMLS ⁷¹ C1868390

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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

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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

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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

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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

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

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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

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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	Harding AE...Baraitser M	7077621	1982
2	[Phocomelia-ectodactyly association. Ear malformations with deafness, sinus arrhythmia, does it constitute a new hereditary syndrome?]. ⁵⁶	Stoll C...Rohmer A	4447434	1974
3	Oculoauriculovertebral spectrum with radial anomaly in child. ⁶¹	Taksande A...Vilhekar K	24479055	2013

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

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

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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.

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

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

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