MCID: CRN051
MIFTS: 26

Craniofacial Microsomia

Categories: Rare diseases, Oral diseases

Aliases & Classifications for Craniofacial Microsomia

MalaCards integrated aliases for Craniofacial Microsomia:

Name: Craniofacial Microsomia 24 53 25 29
Goldenhar Syndrome 25 73
Goldenhar Syndrome with Ipsilateral Radial Defect 73
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
Oculoauriculovertebral Spectrum 25
Auriculobranchiogenic Dysplasia 25
Goldenhar-Gorlin Syndrome 25
Otomandibular Dysostosis 25
Lateral Facial Dysplasia 25
Hemifacial Microsomia 25
Oav Complex 25
Oavs 25
Hfm 25
Cfm 25
Fav 25

Classifications:



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UMLS 73 C0220681

Summaries for Craniofacial Microsomia

NIH Rare Diseases : 53 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.

MalaCards based summary : Craniofacial Microsomia, also known as goldenhar syndrome, is related to folate malabsorption, hereditary and hemifacial microsomia. 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 13)
# Related Disease Score Top Affiliating Genes
1 folate malabsorption, hereditary 11.8
2 hemifacial microsomia 11.4
3 hemifacial microsomia with radial defects 10.0
4 hypospadias 10.0
5 ventricular septal defect 10.0
6 dysostosis 10.0
7 apnea, obstructive sleep 9.9
8 hemifacial hyperplasia 9.9
9 hemifacial atrophy, progressive 9.9
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
11 cataract 9.9
12 sleep apnea 9.9
13 synostosis 9.9

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
4 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
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 Not Applicable
7 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable

Search NIH Clinical Center for Craniofacial Microsomia

Genetic Tests for Craniofacial Microsomia

Genetic tests related to Craniofacial Microsomia:

# Genetic test Affiliating Genes
1 Craniofacial Microsomia 29

Anatomical Context for Craniofacial Microsomia

MalaCards organs/tissues related to Craniofacial Microsomia:

41
Bone, Kidney, Heart, Eye, Tongue

Publications for Craniofacial Microsomia

Articles related to Craniofacial Microsomia:

(show top 50) (show all 77)
# Title Authors Year
1
Facial Expressiveness in Infants With and Without Craniofacial Microsomia: Preliminary Findings. ( 29377723 )
2018
2
Neurodevelopment of Infants with and without Craniofacial Microsomia. ( 29685618 )
2018
3
Healthcare and psychosocial experiences of individuals with craniofacial microsomia: Patient and caregivers perspectives. ( 29501301 )
2018
4
Behavioral-Social Adjustment of Adolescents with Craniofacial Microsomia. ( 29356621 )
2018
5
Is There a Difference in Orbital Volume Between Affected and Unaffected Sides in Patients With Unilateral Craniofacial Microsomia? ( 29859949 )
2018
6
Exploring the Medical and Psychosocial Concerns of Adolescents and Young Adults With Craniofacial Microsomia: A Qualitative Study. ( 29634364 )
2018
7
Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review. ( 29907434 )
2018
8
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. ( 29288792 )
2017
9
In reference to "Central nervous system anomalies in craniofacial microsomia: a systematic review". ( 29199071 )
2017
10
Vertebral anomalies in craniofacial microsomia: a systematic review. ( 28669484 )
2017
11
Three-dimensional Planning and Reconstruction of the Mandible in Children with Craniofacial Microsomia Type III Using Costochondral Grafts. ( 28713738 )
2017
12
Obstructive sleep apnoea in craniofacial microsomia: analysis of 755 patients. ( 28641899 )
2017
13
Early Distraction for Mild to Moderate Unilateral Craniofacial Microsomia: Long-Term Follow-Up, Outcomes, and Recommendations. ( 28350675 )
2017
14
Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia. ( 28841618 )
2017
15
Central nervous system anomalies in craniofacial microsomia: a systematic review. ( 28736116 )
2017
16
Evaluation of Swallow Function in Patients with Craniofacial Microsomia: A Retrospective Study. ( 29103155 )
2017
17
Craniofacial and extracraniofacial anomalies in craniofacial microsomia: a multicenter study of 755 patientsa89 ( 28684073 )
2017
18
Comparison of the adult three-dimensional craniofacial features of patients with unilateral craniofacial microsomia with and without early mandible distraction. ( 28359687 )
2017
19
Characterizing the skull base in craniofacial microsomia using principal component analysis. ( 28774693 )
2017
20
Surgical Classification of the Mandibular Deformity in Craniofacial Microsomia Using 3-Dimensional Computed Tomography. ( 27104097 )
2016
21
Craniofacial Microsomia. ( 27712817 )
2016
22
Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. ( 26853712 )
2016
23
Patient-Specific Implant for Residual Facial Asymmetry following Orthognathic Surgery in Unilateral Craniofacial Microsomia. ( 27516845 )
2016
24
Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research. ( 27891784 )
2016
25
Hearing Loss in Children With Craniofacial Microsomia. ( 27458649 )
2016
26
3D virtual planning in orthognathic surgery and CAD/CAM surgical splints generation in one patient with craniofacial microsomia: a case report. ( 27007767 )
2016
27
Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs. ( 27029551 )
2016
28
Clinical Report: Efficacy of Standard Costochondral Grafting in Patients With Bilateral Craniofacial Microsomia. ( 27617809 )
2016
29
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
30
Unilateral Craniofacial Microsomia: Unrecognized Cause of Pediatric Obstructive Sleep Apnea. ( 26080175 )
2015
31
Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract. ( 26635984 )
2015
32
Clarifying the relationships among the different features of the OMENS+ classification in craniofacial microsomia. ( 25539322 )
2015
33
Long-Term Growth of Costochondral Rib Grafts in Mandibular Reconstruction for Craniofacial Microsomia. ( 26397541 )
2015
34
Orthognathic surgery in craniofacial microsomia: treatment algorithm. ( 25674375 )
2015
35
Obstructive sleep apnoea in craniofacial microsomia: a systematic review. ( 25769220 )
2015
36
Isolated Autologous Free Fat Grafting for Management of Facial Contour Asymmetry in a Subset of Growing Patients With Craniofacial Microsomia. ( 25954839 )
2015
37
Costochondral grafting in craniofacial microsomia. ( 25626797 )
2015
38
Feeding difficulties in craniofacial microsomia: a systematic review. ( 25771070 )
2015
39
Distinguishing Goldenhar Syndrome from Craniofacial Microsomia. ( 26267577 )
2015
40
Influence of congenital facial nerve palsy on craniofacial growth in craniofacial microsomia. ( 25210001 )
2014
41
Anteverted internal auditory canal as an inner ear anomaly in patients with craniofacial microsomia. ( 25002156 )
2014
42
Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research. ( 24132932 )
2013
43
Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia. ( 23806916 )
2013
44
Mandibular distraction in unilateral craniofacial microsomia: longitudinal results until the completion of growth. ( 24165605 )
2013
45
Mandibular reconstruction in the growing patient with unilateral craniofacial microsomia: a systematic review. ( 24332589 )
2013
46
Comparison of two-dimensional and three-dimensional images for phenotypic assessment of craniofacial microsomia. ( 22849636 )
2013
47
Bilateral craniofacial microsomia: orthognathic treatment for an advanced dentofacial deformity. ( 23452975 )
2013
48
Soft tissue correction of craniofacial microsomia and progressive hemifacial atrophy. ( 23154376 )
2012
49
Craniofacial microsomia. ( 23633936 )
2012
50
Evaluation of ICD-9-CM codes for craniofacial microsomia. ( 22903955 )
2012

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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