MCID: HYP059
MIFTS: 44

Hypertelorism, Microtia, Facial Clefting Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypertelorism, Microtia, Facial Clefting Syndrome

MalaCards integrated aliases for Hypertelorism, Microtia, Facial Clefting Syndrome:

Name: Hypertelorism, Microtia, Facial Clefting Syndrome 57 12 15
Bixler Christian Gorlin Syndrome 12 20 44 70
Hmc Syndrome 57 12 20 58
Hypertelorism-Microtia-Facial Clefting Syndrome 12 58
Bixler-Christian-Gorlin Syndrome 12 58
Hypertelorism Microtia Facial Clefting Syndrome 20
Hypertelorism-Microtia-Clefting Syndrome 12
Bixler Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
hypertelorism-microtia-facial clefting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hypertelorism, microtia, facial clefting syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Hypertelorism, Microtia, Facial Clefting Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2213 Definition Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Epidemiology Nine cases have been reported in the literature in seven families. Clinical description Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. Antenatal diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring. Genetic counseling The reported cases support autosomal recessive inheritance.

MalaCards based summary : Hypertelorism, Microtia, Facial Clefting Syndrome, also known as bixler christian gorlin syndrome, is related to antley-bixler syndrome and luteoma. An important gene associated with Hypertelorism, Microtia, Facial Clefting Syndrome is IL11RA (Interleukin 11 Receptor Subunit Alpha), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include kidney and heart, and related phenotypes are hypertelorism and microtia

Disease Ontology : 12 A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.

More information from OMIM: 239800

Related Diseases for Hypertelorism, Microtia, Facial Clefting Syndrome

Diseases related to Hypertelorism, Microtia, Facial Clefting Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 32.4 FGFR3 FGFR2 FGFR1
2 luteoma 30.2 FGFR3 FGFR2
3 hypertelorism 30.2 TWIST1 FGFR2 ALX4
4 synostosis 30.0 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ALX4
5 craniosynostosis 29.7 TWIST1 MSX2 IL11RA FGFR3 FGFR2 FGFR1
6 craniosynostosis 1 29.7 TWIST1 FGFR3 FGFR2
7 ankylosis 29.7 TNFSF11 FGFR2 FGFR1
8 radioulnar synostosis 29.5 TWIST1 FGFR3 FGFR2 FGFR1
9 jackson-weiss syndrome 29.4 MSX2 FGFR3 FGFR2 FGFR1
10 pfeiffer syndrome 29.1 TWIST1 PTPN11 MSX2 FGFR3 FGFR2 FGFR1
11 cleft palate, isolated 29.0 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ALX4
12 bone disease 28.9 TNFSF11 IL11 FGFR3 FGFR2 FGFR1
13 crouzon syndrome 28.6 TWIST1 MSX2 IL11RA FGFR3 FGFR2 FGFR1
14 dysostosis 28.4 TWIST1 TNFSF11 MSX2 FGFR3 FGFR2 FGFR1
15 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.8
16 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.7
17 cytochrome p450 oxidoreductase deficiency 11.6
18 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 11.5
19 faciocardiorenal syndrome 11.3
20 krieble bixler syndrome 11.2
21 bartter syndrome, type 2, antenatal 11.0
22 bartter syndrome, type 1, antenatal 11.0
23 antley-bixler syndrome without genital anomaly or disorder of steroidogenesis 11.0
24 lipoid congenital adrenal hyperplasia 10.4
25 choanal atresia, posterior 10.3
26 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.3
27 exophthalmos 10.3
28 baastrup's syndrome 10.3 MSX2 ALX4
29 isolated scaphocephaly 10.2 TWIST1 ALX4
30 familial glucocorticoid deficiency 10.2
31 epilepsy, familial temporal lobe, 2 10.2 IL11RA IL11
32 hemifacial hyperplasia 10.1 FGFR3 FGFR2
33 dacryocystocele 10.1 FGFR3 FGFR2
34 chronic inflammation of lacrimal passage 10.1 FGFR3 FGFR2
35 humeroradial synostosis 10.1
36 anus, imperforate 10.1
37 clubfoot 10.1
38 physical disorder 10.1 MSX2 FGFR2 ALX4
39 acanthoma 10.1 FGFR3 FGFR2
40 beare-stevenson cutis gyrata syndrome 10.0 FGFR3 FGFR2
41 trigonocephaly 1 10.0
42 chiari malformation type ii 10.0
43 aromatase deficiency 10.0
44 hydrocephalus 10.0
45 chiari malformation 10.0
46 isolated trigonocephaly 10.0
47 microtia 10.0
48 hepatocellular clear cell carcinoma 10.0 FGFR2 FGFR1
49 isolated plagiocephaly 10.0 TWIST1 FGFR3
50 isolated brachycephaly 10.0 TWIST1 FGFR3

Graphical network of the top 20 diseases related to Hypertelorism, Microtia, Facial Clefting Syndrome:



Diseases related to Hypertelorism, Microtia, Facial Clefting Syndrome

Symptoms & Phenotypes for Hypertelorism, Microtia, Facial Clefting Syndrome

Human phenotypes related to Hypertelorism, Microtia, Facial Clefting Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
5 median cleft lip and palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0008501
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
9 horseshoe kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000085
10 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
11 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
12 crossed fused renal ectopia 58 31 frequent (33%) Frequent (79-30%) HP:0004736
13 thenar muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003393
14 bifid nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000456
15 bifid nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0011803
16 abnormal vertebral morphology 31 HP:0003468
17 cleft palate 31 HP:0000175
18 micrognathia 31 HP:0000347
19 ectopic kidney 31 HP:0000086
20 narrow mouth 31 HP:0000160
21 cleft upper lip 31 HP:0000204
22 abnormality of the vertebral column 31 HP:0000925
23 facial cleft 31 HP:0002006
24 psychomotor retardation 31 HP:0025356
25 abnormality of cardiovascular system morphology 31 HP:0030680
26 abnormal heart morphology 31 HP:0001627
27 broad nasal tip 31 HP:0000455
28 short 5th finger 31 HP:0009237
29 2-3 toe syndactyly 31 HP:0004691
30 small thenar eminence 31 HP:0001245

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
hypertelorism

Head:
microcephaly

G U:
ectopic kidney

Neuro:
psychomotor retardation

Skel:
vertebral anomalies

Ears:
microtia
conductive deafness
atretic auditory canals

Mouth:
cleft palate
cleft lip
microstomia

Facies:
facial cleft
broad nasal tip
mild micrognathia
cleft nose

Cardiac:
congenital heart defect

Limbs:
thenar hypoplasia
short fifth finger
syndactyly, toes 2 and 3

Clinical features from OMIM®:

239800 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hypertelorism, Microtia, Facial Clefting Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ALX4 DNTT FGFR1 FGFR2 FGFR3 IL11RA
2 behavior/neurological MP:0005386 10.23 ALX4 FGFR1 FGFR2 FGFR3 MSX2 PTPN11
3 craniofacial MP:0005382 10.22 ALX4 FGFR1 FGFR2 FGFR3 MSX2 PTPN11
4 digestive/alimentary MP:0005381 10.21 ALX4 FGFR1 FGFR2 FGFR3 IL11RA MSX2
5 embryo MP:0005380 10.2 ALX4 FGFR1 FGFR2 IL11RA MSX2 PIGO
6 hematopoietic system MP:0005397 10.15 DNTT FGFR1 FGFR2 FGFR3 IL11RA MSX2
7 mortality/aging MP:0010768 10.14 ALX4 FGFR1 FGFR2 FGFR3 IL11RA MSX2
8 immune system MP:0005387 10.13 DNTT FGFR1 FGFR2 FGFR3 IL11RA MSX2
9 endocrine/exocrine gland MP:0005379 10.08 FGFR1 FGFR2 IL11RA MSX2 PTPN11 STAT3
10 integument MP:0010771 10.06 ALX4 FGFR1 FGFR2 FGFR3 MSX2 PTPN11
11 limbs/digits/tail MP:0005371 10.03 ALX4 FGFR1 FGFR2 FGFR3 MSX2 PTPN11
12 muscle MP:0005369 9.97 ALX4 FGFR1 FGFR2 MSX2 PTPN11 STAT3
13 nervous system MP:0003631 9.97 ALX4 FGFR1 FGFR2 FGFR3 MSX2 PIGO
14 hearing/vestibular/ear MP:0005377 9.91 FGFR1 FGFR2 FGFR3 MSX2 PTPN11
15 normal MP:0002873 9.91 ALX4 DNTT FGFR1 FGFR2 FGFR3 MSX2
16 skeleton MP:0005390 9.65 ALX4 DNTT FGFR1 FGFR2 FGFR3 MSX2
17 respiratory system MP:0005388 9.63 ALX4 FGFR2 FGFR3 PTPN11 STAT3 TNFSF11
18 vision/eye MP:0005391 9.28 ALX4 FGFR1 FGFR2 FGFR3 MSX2 PIGO

Drugs & Therapeutics for Hypertelorism, Microtia, Facial Clefting Syndrome

Search Clinical Trials , NIH Clinical Center for Hypertelorism, Microtia, Facial Clefting Syndrome

Cochrane evidence based reviews: bixler christian gorlin syndrome

Genetic Tests for Hypertelorism, Microtia, Facial Clefting Syndrome

Anatomical Context for Hypertelorism, Microtia, Facial Clefting Syndrome

MalaCards organs/tissues related to Hypertelorism, Microtia, Facial Clefting Syndrome:

40
Kidney, Heart

Publications for Hypertelorism, Microtia, Facial Clefting Syndrome

Articles related to Hypertelorism, Microtia, Facial Clefting Syndrome:

# Title Authors PMID Year
1
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases. 61 57
11152141 2001
2
HMC syndrome in identical twins. 61 57
987013 1976
3
The hypertelorism microtia clefting syndrome. 57
7143395 1982
4
Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. 57
4309010 1969
5
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings. 61
19650062 2009
6
In utero exposure to mycophenolate mofetil: a characteristic phenotype? 61
18074358 2008
7
Hypertelorism-microtia-clefting (HMC) syndrome. 61
7811429 1994
8
Refined determination of breakpoints of the translocation t(1;7) associated with signs of HMC syndrome. 61
1920914 1991

Variations for Hypertelorism, Microtia, Facial Clefting Syndrome

Expression for Hypertelorism, Microtia, Facial Clefting Syndrome

Search GEO for disease gene expression data for Hypertelorism, Microtia, Facial Clefting Syndrome.

Pathways for Hypertelorism, Microtia, Facial Clefting Syndrome

Pathways related to Hypertelorism, Microtia, Facial Clefting Syndrome according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 TWIST1 TNFSF11 STAT3 PTPN11 IL11RA IL11
2
Show member pathways
13.68 TNFSF11 STAT3 IL11RA IL11 FGFR3 FGFR2
3
Show member pathways
13.53 TNFSF11 STAT3 IL11RA IL11 FGFR3 FGFR2
4
Show member pathways
13.37 STAT3 PTPN11 IL11RA IL11 FGFR3 FGFR2
5
Show member pathways
13.17 TNFSF11 STAT3 IL11RA IL11 FGFR3 FGFR2
6
Show member pathways
12.93 TNFSF11 PTPN11 IL11RA IL11 FGFR3 FGFR2
7 12.7 STAT3 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.7 STAT3 IL11 FGFR3 FGFR2 FGFR1
9
Show member pathways
12.6 PTPN11 FGFR3 FGFR2 FGFR1
10
Show member pathways
12.59 PTPN11 FGFR3 FGFR2 FGFR1
11
Show member pathways
12.5 STAT3 PTPN11 FGFR3 FGFR2
12
Show member pathways
12.44 PTPN11 FGFR3 FGFR2 FGFR1
13
Show member pathways
12.39 TWIST1 TNFSF11 STAT3 PTPN11 IL11RA IL11
14
Show member pathways
12.37 STAT3 FGFR3 FGFR2 FGFR1
15
Show member pathways
12.28 PTPN11 FGFR3 FGFR2 FGFR1
16
Show member pathways
12.27 STAT3 FGFR3 FGFR2 FGFR1
17
Show member pathways
12.27 STAT3 PTPN11 IL11RA IL11
18
Show member pathways
12.24 PTPN11 FGFR3 FGFR2 FGFR1
19
Show member pathways
12.15 PTPN11 FGFR3 FGFR2 FGFR1
20 12.15 TWIST1 STAT3 PTPN11 FGFR1
21
Show member pathways
12.12 IL11RA FGFR3 FGFR2 FGFR1
22
Show member pathways
12.1 PTPN11 FGFR3 FGFR2 FGFR1
23 12.06 TWIST1 STAT3 PTPN11
24 12 FGFR3 FGFR2 FGFR1
25
Show member pathways
11.9 STAT3 FGFR3 FGFR2 FGFR1
26 11.82 STAT3 FGFR3 FGFR2 FGFR1
27 11.79 IL11RA IL11 DNTT
28 11.74 FGFR3 FGFR2 FGFR1
29
Show member pathways
11.71 TNFSF11 STAT3 PTPN11
30 11.58 FGFR3 FGFR2 FGFR1
31 11.36 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
32 11.34 PTPN11 FGFR2 FGFR1
33
Show member pathways
11.32 STAT3 PTPN11 IL11RA IL11
34 11.29 FGFR3 FGFR2 FGFR1
35 11.24 FGFR3 FGFR2 FGFR1
36
Show member pathways
11.15 STAT3 PTPN11
37 11.1 STAT3 PTPN11 IL11RA IL11
38 11.07 STAT3 PTPN11
39 10.85 TNFSF11 IL11 FGFR3 FGFR2 FGFR1

GO Terms for Hypertelorism, Microtia, Facial Clefting Syndrome

Cellular components related to Hypertelorism, Microtia, Facial Clefting Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.92 IL11RA FGFR3 FGFR2 FGFR1

Biological processes related to Hypertelorism, Microtia, Facial Clefting Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10 TWIST1 TNFSF11 STAT3 IL11 FGFR2 ALX4
2 multicellular organism development GO:0007275 9.95 TWIST1 TNFSF11 MSX2 FGFR3 FGFR2 FGFR1
3 positive regulation of cell proliferation GO:0008284 9.8 STAT3 IL11RA IL11 FGFR3 FGFR2 FGFR1
4 protein autophosphorylation GO:0046777 9.79 FGFR3 FGFR2 FGFR1
5 skeletal system development GO:0001501 9.78 FGFR3 FGFR1 ALX4
6 peptidyl-tyrosine phosphorylation GO:0018108 9.77 FGFR3 FGFR2 FGFR1
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.76 FGFR3 FGFR2 FGFR1
8 ossification GO:0001503 9.75 TWIST1 TNFSF11 MSX2
9 positive regulation of interleukin-6 production GO:0032755 9.73 TWIST1 STAT3 PTPN11
10 positive regulation of tumor necrosis factor production GO:0032760 9.71 TWIST1 STAT3 PTPN11
11 positive regulation of kinase activity GO:0033674 9.67 FGFR3 FGFR2 FGFR1
12 positive regulation of MAPK cascade GO:0043410 9.67 IL11 FGFR3 FGFR2 FGFR1
13 digestive tract development GO:0048565 9.63 FGFR2 ALX4
14 embryonic forelimb morphogenesis GO:0035115 9.63 TWIST1 ALX4
15 bone development GO:0060348 9.63 TWIST1 TNFSF11 FGFR2
16 embryonic hindlimb morphogenesis GO:0035116 9.62 TWIST1 ALX4
17 positive regulation of vascular endothelial cell proliferation GO:1905564 9.61 STAT3 FGFR1
18 skeletal system morphogenesis GO:0048705 9.61 FGFR2 FGFR1 ALX4
19 interleukin-6-mediated signaling pathway GO:0070102 9.6 STAT3 PTPN11
20 organ growth GO:0035265 9.57 PTPN11 FGFR2
21 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 PTPN11 FGFR3 FGFR2 FGFR1
22 negative regulation of hormone secretion GO:0046888 9.55 PTPN11 IL11
23 positive regulation of protein kinase B signaling GO:0051897 9.55 TNFSF11 PTPN11 FGFR3 FGFR2 FGFR1
24 endochondral bone growth GO:0003416 9.51 FGFR3 FGFR2
25 cranial suture morphogenesis GO:0060363 9.48 TWIST1 MSX2
26 positive regulation of phospholipase activity GO:0010518 9.13 FGFR3 FGFR2 FGFR1
27 cytokine-mediated signaling pathway GO:0019221 9.1 TWIST1 TNFSF11 STAT3 PTPN11 IL11RA IL11

Molecular functions related to Hypertelorism, Microtia, Facial Clefting Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TWIST1 TNFSF11 STAT3 FGFR3 FGFR2 FGFR1
2 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Hypertelorism, Microtia, Facial Clefting Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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