MCID: HMF010
MIFTS: 26

Hemifacial Microsomia with Radial Defects

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hemifacial Microsomia with Radial Defects

MalaCards integrated aliases for Hemifacial Microsomia with Radial Defects:

Name: Hemifacial Microsomia with Radial Defects 56 52
Goldenhar Syndrome with Ipsilateral Radial Defect 56 52 71
Oculoauriculovertebral Spectrum with Radial Defect 56 52
Oavs with Radial Defect 56 52
Oculoauriculovertebral Spectrum with Radial Defects 58
Hemifacial Microsomia-Radial Defects Syndrome 58
Microsomia Hemifacial Radial Defects 52
Moeschler Clarren Syndrome 52
Moeschler-Clarren Syndrome 58
Goldenhar Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? same as goldenhar syndrome


HPO:

31
hemifacial microsomia with radial defects:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 141400
ICD10 via Orphanet 33 Q75.8
UMLS via Orphanet 72 C0220681 C0265240
Orphanet 58 ORPHA2549
MedGen 41 C0220681
UMLS 71 C0220681 C0265240

Summaries for Hemifacial Microsomia with Radial Defects

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2549 Definition Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature , vertebral defects, hearing loss , and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly , thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hemifacial Microsomia with Radial Defects, also known as goldenhar syndrome with ipsilateral radial defect, is related to craniofacial microsomia and hemifacial microsomia. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are microtia and facial asymmetry

More information from OMIM: 141400

Related Diseases for Hemifacial Microsomia with Radial Defects

Diseases related to Hemifacial Microsomia with Radial Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniofacial microsomia 11.7
2 hemifacial microsomia 11.6
3 microtia 10.1

Symptoms & Phenotypes for Hemifacial Microsomia with Radial Defects

Human phenotypes related to Hemifacial Microsomia with Radial Defects:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
3 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
4 short mandibular rami 58 31 hallmark (90%) Very frequent (99-80%) HP:0003778
5 laryngeal stridor 58 31 hallmark (90%) Very frequent (99-80%) HP:0006511
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
8 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
9 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
10 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
11 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
12 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
13 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
14 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
15 abnormality of the middle ear ossicles 58 31 frequent (33%) Frequent (79-30%) HP:0004452
16 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
17 distal urethral duplication 58 31 frequent (33%) Frequent (79-30%) HP:0008706
18 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
19 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
20 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
21 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
22 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
23 aplasia/hypoplasia of the lungs 58 31 occasional (7.5%) Occasional (29-5%) HP:0006703
24 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
25 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056
26 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
27 maternal diabetes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009800
28 malformation of the heart and great vessels 58 Very frequent (99-80%)
29 abnormality of the inner ear 58 Very frequent (99-80%)
30 abnormality of the genital system 58 Occasional (29-5%)
31 oral cleft 58 Frequent (79-30%)
32 complete duplication of thumb phalanx 31 HP:0009943
33 hemifacial hypoplasia 31 HP:0011332

Symptoms via clinical synopsis from OMIM:

56
Ears:
microtia
conductive hearing loss
external auditory canal atresia
multiple preauricular ear tags and pits

Limbs:
triphalangeal thumbs
radial limb defects
thumb duplication

Mouth:
oral cleft

Facies:
hemifacial microsomia
skin tags at mandibular angle
short mandibular ramus

Clinical features from OMIM:

141400

Drugs & Therapeutics for Hemifacial Microsomia with Radial Defects

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Facial Soft Tissue Augmentation in Patients With Craniofacial Microsomia. Completed NCT01674439 Phase 2
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
4 Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome. Completed NCT04056858
5 The Effect of Bone Marrow Aspirate Concentrate on Bone Regenerate During Rapid Mandibular Distraction Osteogensis Completed NCT03861650
6 Technical Notes on Novel Technique and Step by Step Construction of Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021
7 Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia Recruiting NCT03806361
8 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312

Search NIH Clinical Center for Hemifacial Microsomia with Radial Defects

Genetic Tests for Hemifacial Microsomia with Radial Defects

Anatomical Context for Hemifacial Microsomia with Radial Defects

MalaCards organs/tissues related to Hemifacial Microsomia with Radial Defects:

40
Bone, Skin, Bone Marrow, Eye, Heart, Lung

Publications for Hemifacial Microsomia with Radial Defects

Articles related to Hemifacial Microsomia with Radial Defects:

# Title Authors PMID Year
1
Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. 61 56
17290277 2007
2
Goldenhar complex: a further case with uncommon associated anomalies. 56
9098494 1997
3
Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients. 56
1481833 1992
4
Familial occurrence of hemifacial microsomia with radial limb defects. 56
7124792 1982
5
Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. 56
7341641 1981

Variations for Hemifacial Microsomia with Radial Defects

Expression for Hemifacial Microsomia with Radial Defects

Search GEO for disease gene expression data for Hemifacial Microsomia with Radial Defects.

Pathways for Hemifacial Microsomia with Radial Defects

GO Terms for Hemifacial Microsomia with Radial Defects

Sources for Hemifacial Microsomia with Radial Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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
Content
Loading form....