MCID: CRN051
MIFTS: 25

Craniofacial Microsomia

Categories: Rare diseases, Genetic diseases, Oral diseases

Aliases & Classifications for Craniofacial Microsomia

MalaCards integrated aliases for Craniofacial Microsomia:

Name: Craniofacial Microsomia 23 50 24 25 29
Goldenhar Syndrome 25 69
Goldenhar Syndrome with Ipsilateral Radial Defect 69
Asymmetric Hypoplasia of Facial Structures 25
First and Second Pharyngeal Arch Syndromes 25
First and Second Branchial Arch Syndrome 25
Unilateral Intrauterine Facial Necrosis 25
Unilateral Mandibulofacial Dysostosis 25
Oral-Mandibular-Auricular Syndrome 25
Facioauriculovertebral Dysplasia 25
Auriculobranchiogenic Dysplasia 25
Oculoauriculovertebral Spectrum 25
Goldenhar-Gorlin Syndrome 25
Otomandibular Dysostosis 25
Lateral Facial Dysplasia 25
Hemifacial Microsomia 25
Oav Complex 25
Oavs 25
Cfm 25
Fav 25
Hfm 25

Classifications:



Summaries for Craniofacial Microsomia

NIH Rare Diseases : 50 craniofacial microsomia (cfm) includes several conditions characterized by defects that occur when the fetus is forming within the womb of the mother, in structures known as the "first and second brachial arch". these structures will develop to form the neck and the head. the first arches produce the lower jaw, two bones inside the ear, and nerves and muscles for chewing. the second arches give rise to the nerves and muscles of facial expression, one bone in the middle ear, most of the outer ear, and parts of the bone above the larynx (voice box). microsomia means abnormal smallness of body structures. cfm findings include differences in the size and shape between the right and left sides of the face (facial asymmetry), small chin and jaw, tissue in front of the ear (preauricular or facial tags); ear malformations such as microtia (small ear), anotia (absence of ear); and hearing loss. other problems may include cleft lip and/or palate, vertebral, renal (kidney), heart, and limb defects. many other terms have been used for craniofacial microsomia. these other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. these conditions include hemifacial microsomia (when only one side of the face is affected), goldenhar syndrome (hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids), and others, such as first and second branchial arch syndrome, otomandibular dysostosis, facio-auriculo-vertebral syndrome and lateral facial dysplasia. it is still not been proven whether these diseases are distinct diagnoses or part of the same condition with different degrees of severity. in most cases, cfm is sporadic and the cause is unknown. in other cases, it can be due to a chromosome abnormality or is inherited in an autosomal dominant or recessive pattern. treatment is age and symptom dependent, addressing each symptom at the appropriate stage of craniofacial growth and development. last updated: 4/30/2016

MalaCards based summary : Craniofacial Microsomia, also known as goldenhar syndrome, is related to lateral facial dysplasia and folate malabsorption, hereditary. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart.

Genetics Home Reference : 25 Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.

GeneReviews: NBK5199

Related Diseases for Craniofacial Microsomia

Diseases related to Craniofacial Microsomia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 lateral facial dysplasia 12.1
2 folate malabsorption, hereditary 11.7
3 hemifacial microsomia with radial defects 11.2
4 hemifacial microsomia 10.9
5 oculo-auriculo-vertebral spectrum 10.9
6 encephalocele 9.9
7 hypospadias 9.9
8 ventricular septal defect 9.9
9 dysostosis 9.9
10 microtia 9.9
11 cataract 9.8
12 sleep apnea 9.8
13 obstructive sleep apnea 9.8
14 synostosis 9.8
15 townes-brocks syndrome 9.7

Graphical network of the top 20 diseases related to Craniofacial Microsomia:



Diseases related to Craniofacial Microsomia

Symptoms & Phenotypes for Craniofacial Microsomia

Drugs & Therapeutics for Craniofacial Microsomia

Drugs for Craniofacial Microsomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
3 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
5 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
6 Accuracy of a CAD/CAM Surgical Template for Mandible Distraction Recruiting NCT03270618

Search NIH Clinical Center for Craniofacial Microsomia

Genetic Tests for Craniofacial Microsomia

Genetic tests related to Craniofacial Microsomia:

id Genetic test Affiliating Genes
1 Craniofacial Microsomia 29 24

Anatomical Context for Craniofacial Microsomia

MalaCards organs/tissues related to Craniofacial Microsomia:

39
Bone, Kidney, Heart, Eye, Tongue

Publications for Craniofacial Microsomia

Articles related to Craniofacial Microsomia:

(show top 50) (show all 66)
id Title Authors Year
1
Central nervous system anomalies in craniofacial microsomia: a systematic review. ( 28736116 )
2017
2
Obstructive sleep apnoea in craniofacial microsomia: analysis of 755 patients. ( 28641899 )
2017
3
Characterizing the skull base in craniofacial microsomia using principal component analysis. ( 28774693 )
2017
4
Early Distraction for Mild to Moderate Unilateral Craniofacial Microsomia: Long-Term Follow-Up, Outcomes, and Recommendations. ( 28350675 )
2017
5
Vertebral anomalies in craniofacial microsomia: a systematic review. ( 28669484 )
2017
6
Comparison of the adult three-dimensional craniofacial features of patients with unilateral craniofacial microsomia with and without early mandible distraction. ( 28359687 )
2017
7
Three-dimensional Planning and Reconstruction of the Mandible in Children with Craniofacial Microsomia Type III Using Costochondral Grafts. ( 28713738 )
2017
8
Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia. ( 28841618 )
2017
9
Hearing Loss in Children With Craniofacial Microsomia. ( 27458649 )
2016
10
Patient-Specific Implant for Residual Facial Asymmetry following Orthognathic Surgery in Unilateral Craniofacial Microsomia. ( 27516845 )
2016
11
Surgical Classification of the Mandibular Deformity in Craniofacial Microsomia Using 3-Dimensional Computed Tomography. ( 27104097 )
2016
12
Craniofacial Microsomia. ( 27712817 )
2016
13
Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. ( 26853712 )
2016
14
Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs. ( 27029551 )
2016
15
Clinical Report: Efficacy of Standard Costochondral Grafting in Patients With Bilateral Craniofacial Microsomia. ( 27617809 )
2016
16
3D virtual planning in orthognathic surgery and CAD/CAM surgical splints generation in one patient with craniofacial microsomia: a case report. ( 27007767 )
2016
17
Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research. ( 27891784 )
2016
18
Isolated Autologous Free Fat Grafting for Management of Facial Contour Asymmetry in a Subset of Growing Patients With Craniofacial Microsomia. ( 25954839 )
2015
19
Distinguishing Goldenhar Syndrome from Craniofacial Microsomia. ( 26267577 )
2015
20
Obstructive sleep apnoea in craniofacial microsomia: a systematic review. ( 25769220 )
2015
21
Anatomical study of the course of the inferior alveolar nerve in craniofacial microsomia using three-dimensional computed tomography: correlation with the Pruzansky classification. ( 25765599 )
2015
22
Costochondral grafting in craniofacial microsomia. ( 25626797 )
2015
23
Orthognathic surgery in craniofacial microsomia: treatment algorithm. ( 25674375 )
2015
24
Long-Term Growth of Costochondral Rib Grafts in Mandibular Reconstruction for Craniofacial Microsomia. ( 26397541 )
2015
25
Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract. ( 26635984 )
2015
26
Feeding difficulties in craniofacial microsomia: a systematic review. ( 25771070 )
2015
27
Clarifying the relationships among the different features of the OMENS+ classification in craniofacial microsomia. ( 25539322 )
2015
28
Unilateral Craniofacial Microsomia: Unrecognized Cause of Pediatric Obstructive Sleep Apnea. ( 26080175 )
2015
29
Influence of congenital facial nerve palsy on craniofacial growth in craniofacial microsomia. ( 25210001 )
2014
30
Anteverted internal auditory canal as an inner ear anomaly in patients with craniofacial microsomia. ( 25002156 )
2014
31
Bilateral craniofacial microsomia: orthognathic treatment for an advanced dentofacial deformity. ( 23452975 )
2013
32
Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia. ( 23806916 )
2013
33
Mandibular distraction in unilateral craniofacial microsomia: longitudinal results until the completion of growth. ( 24165605 )
2013
34
Mandibular reconstruction in the growing patient with unilateral craniofacial microsomia: a systematic review. ( 24332589 )
2013
35
Comparison of two-dimensional and three-dimensional images for phenotypic assessment of craniofacial microsomia. ( 22849636 )
2013
36
Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research. ( 24132932 )
2013
37
Craniofacial microsomia. ( 23633936 )
2012
38
Soft tissue correction of craniofacial microsomia and progressive hemifacial atrophy. ( 23154376 )
2012
39
Evaluation of ICD-9-CM codes for craniofacial microsomia. ( 22903955 )
2012
40
Craniofacial microsomia: goals of treatment, staged reconstruction and long-term outcome. ( 22423423 )
2011
41
Photographic protocol for image acquisition in craniofacial microsomia. ( 22208766 )
2011
42
Craniofacial microsomia soft-tissue reconstruction comparison: inframammary extended circumflex scapular flap versus serial fat grafting. ( 21285784 )
2011
43
A phenotypic assessment tool for craniofacial microsomia. ( 21200224 )
2011
44
A New Classification Based on the Kaban's Modification for Surgical Management of Craniofacial Microsomia. ( 22110812 )
2010
45
Tongue dysmorphology in craniofacial microsomia. ( 19644278 )
2009
46
Effect of calcium sulfate pellets on early bone mineralization in distraction osteogenesis for craniofacial microsomia in adults. ( 17993874 )
2007
47
Lincoln's craniofacial microsomia: three-dimensional laser scanning of 2 Lincoln life masks. ( 17698764 )
2007
48
Long-term stability and growth following unilateral mandibular distraction in growing children with craniofacial microsomia. ( 16980861 )
2006
49
A case of unilateral coronal synostosis in a child with craniofacial microsomia. ( 17105329 )
2006
50
The course of the inferior alveolar nerve in craniofacial microsomia: virtual dissection using three-dimensional computed tomography image analysis. ( 11932591 )
2002

Variations for Craniofacial Microsomia

Expression for Craniofacial Microsomia

Search GEO for disease gene expression data for Craniofacial Microsomia.

Pathways for Craniofacial Microsomia

GO Terms for Craniofacial Microsomia

Sources for Craniofacial Microsomia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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