MCID: HYP059
MIFTS: 29

Hypertelorism, Microtia, Facial Clefting Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic 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 53 44 73
Hmc Syndrome 57 12 53 59
Hypertelorism-Microtia-Facial Clefting Syndrome 12 59
Bixler-Christian-Gorlin Syndrome 12 59
Hypertelorism Microtia Facial Clefting Syndrome 53
Hypertelorism-Microtia-Clefting Syndrome 12
Bixler Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
hypertelorism-microtia-facial clefting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypertelorism, microtia, facial clefting syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypertelorism, Microtia, Facial Clefting Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2213Disease definitionHypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.EpidemiologyNine cases have been reported in the literature in seven families.Clinical descriptionSome patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common.Antenatal diagnosisAntenatal diagnosis is possible by ultrasonographic monitoring.Genetic counselingThe reported cases support autosomal recessive inheritance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypertelorism, Microtia, Facial Clefting Syndrome, also known as bixler christian gorlin syndrome, is related to antley-bixler syndrome and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. An important gene associated with Hypertelorism, Microtia, Facial Clefting Syndrome is UROD (Uroporphyrinogen Decarboxylase). Affiliated tissues include kidney and heart, and related phenotypes are microcephaly and hypertelorism

Disease Ontology : 12 An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.

Description from OMIM: 239800

Related Diseases for Hypertelorism, Microtia, Facial Clefting Syndrome

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism

Head:
microcephaly

GU:
ectopic kidney

Cardiac:
congenital heart defect

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

Ears:
microtia
conductive deafness
atretic auditory canals

Mouth:
cleft palate
cleft lip
microstomia

Facies:
broad nasal tip
facial cleft
mild micrognathia
cleft nose

Skel:
vertebral anomalies

Neuro:
psychomotor retardation


Clinical features from OMIM:

239800

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

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
4 median cleft lip and palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0008501
5 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
6 horseshoe kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000085
7 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
8 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
9 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
10 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
11 thenar muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003393
12 severe short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003510
13 crossed fused renal ectopia 59 32 frequent (33%) Frequent (79-30%) HP:0004736
14 bifid nasal tip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000456
15 bifid nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0011803
16 ectopic kidney 32 HP:0000086
17 narrow mouth 32 HP:0000160
18 cleft palate 32 HP:0000175
19 cleft upper lip 32 HP:0000204
20 micrognathia 32 HP:0000347
21 broad nasal tip 32 HP:0000455
22 abnormality of the vertebral column 32 HP:0000925
23 small thenar eminence 32 HP:0001245
24 abnormal heart morphology 32 HP:0001627
25 facial cleft 32 HP:0002006
26 abnormal vertebral morphology 32 HP:0003468
27 2-3 toe syndactyly 32 HP:0004691
28 short 5th finger 32 HP:0009237
29 abnormality of cardiovascular system morphology 32 HP:0030680

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:

41
Kidney, Heart

Publications for Hypertelorism, Microtia, Facial Clefting Syndrome

Articles related to Hypertelorism, Microtia, Facial Clefting Syndrome:

# Title Authors Year
1
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings. ( 19650062 )
2009
2
Hypertelorism-microtia-clefting (HMC) syndrome. ( 7811429 )
1994

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

GO Terms for Hypertelorism, Microtia, Facial Clefting Syndrome

Sources for Hypertelorism, Microtia, Facial Clefting Syndrome

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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