MCID: MND020
MIFTS: 31

Mandibulofacial Dysostosis, Guion-Almeida Type

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

Aliases & Classifications for Mandibulofacial Dysostosis, Guion-Almeida Type

MalaCards integrated aliases for Mandibulofacial Dysostosis, Guion-Almeida Type:

Name: Mandibulofacial Dysostosis, Guion-Almeida Type 53 12 23 49 24 55 13
Mandibulofacial Dysostosis with Microcephaly 53 12 23 49 24 71 36
Mfdga 53 23 49 24
Mfdm 53 49 24 71
Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate 53 28 69
Mandibulofacial Dysostosis-Microcephaly Syndrome 49 55
Mfdm Syndrome 49 55
Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome 49
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate 49
Growth and Mental Retardation Mandibulofacial Dysostosis Microcephaly and Cleft Palate 71
Mandibulofacial Dysostosis with Microcephaly; Mfdm 53

Characteristics:

Orphanet epidemiological data:

55
mandibulofacial dysostosis-microcephaly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation resulting in haploinsufficiency of eftud2


HPO:

31
mandibulofacial dysostosis, guion-almeida type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Mfdm is highly penetrant but variably expressive. features may be subclinical in some affected individuals, as in the case of a non-mosaic, intellectually normal mother of two affected children, in whom the only reported clinical finding was unilateral zygomatic cleft [voigt et al 2013]...

Classifications:



Summaries for Mandibulofacial Dysostosis, Guion-Almeida Type

NIH Rare Diseases : 49 Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner. Last updated: 7/27/2015

MalaCards based summary : Mandibulofacial Dysostosis, Guion-Almeida Type, also known as mandibulofacial dysostosis with microcephaly, is related to dysostosis and cleft palate, isolated, and has symptoms including seizures, malar flattening and low-set ears. An important gene associated with Mandibulofacial Dysostosis, Guion-Almeida Type is EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include skin, heart and trachea.

OMIM : 53 Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate (summary by Lines et al., 2012). (610536)

UniProtKB/Swiss-Prot : 71 Mandibulofacial dysostosis with microcephaly: A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.

Genetics Home Reference : 24 Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.

Disease Ontology : 12 An autosomal dominant disease characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia,

GeneReviews: NBK214367

Related Diseases for Mandibulofacial Dysostosis, Guion-Almeida Type

Diseases related to Mandibulofacial Dysostosis, Guion-Almeida Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysostosis 10.4
2 cleft palate, isolated 10.3
3 microcephaly 10.3

Symptoms & Phenotypes for Mandibulofacial Dysostosis, Guion-Almeida Type

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
microtia
conductive hearing loss
dysplastic ears
preauricular skin tags
more
Head And Neck Face:
micrognathia
midface hypoplasia
prominent philtrum
malar hypoplasia
buccal tags

Head And Neck Eyes:
telecanthus
downslanting palpebral fissures
epicanthal folds
upslanting palpebral fissures

Skeletal Hands:
preaxial polydactyly
slender fingers
proximally placed thumbs (in some patients)

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
severe speech delay

Growth Height:
short stature (of varying degrees)

Head And Neck Nose:
short nose
anteverted nares
choanal atresia (in some patients)
upturned nose

Cardiovascular Heart:
atrial septal defect
ventricular septal defect (in some patients)

Head And Neck Head:
trigonocephaly
microcephaly, progressive (-3 to 6 sd)

Head And Neck Mouth:
cleft palate (in some patients)

Abdomen Gastroin testinal:
feeding problems
esophageal atresia (in some patients)

Respiratory:
breathing difficulties due to choanal atresia


Clinical features from OMIM:

610536

Human phenotypes related to Mandibulofacial Dysostosis, Guion-Almeida Type:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microtia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008551
8 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
10 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
12 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
13 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
14 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
15 abnormality of the antihelix 55 31 hallmark (90%) Very frequent (99-80%) HP:0009738
16 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
17 conductive hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000405
18 upslanted palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000582
19 overfolded helix 55 31 frequent (33%) Frequent (79-30%) HP:0000396
20 preauricular skin tag 55 31 hallmark (90%) Very frequent (99-80%) HP:0000384
21 preaxial hand polydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001177
22 large earlobe 55 31 frequent (33%) Frequent (79-30%) HP:0009748
23 atresia of the external auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0000413
24 trigonocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000243
25 postnatal microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0005484
26 accessory oral frenulum 55 31 frequent (33%) Frequent (79-30%) HP:0000191
27 morphological abnormality of the middle ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0008609
28 absent tragus 55 31 hallmark (90%) Very frequent (99-80%) HP:0011268
29 underdeveloped tragus 55 31 hallmark (90%) Very frequent (99-80%) HP:0011272
30 respiratory distress 31 HP:0002098
31 global developmental delay 31 HP:0001263
32 microcephaly 31 HP:0000252
33 anteverted nares 31 HP:0000463
34 feeding difficulties in infancy 31 HP:0008872
35 downslanted palpebral fissures 31 HP:0000494
36 choanal atresia 31 HP:0000453
37 ventricular septal defect 31 occasional (7.5%) HP:0001629
38 deep philtrum 31 HP:0002002
39 midface retrusion 31 HP:0011800
40 slender finger 31 HP:0001238
41 proximal placement of thumb 31 occasional (7.5%) HP:0009623
42 esophageal atresia 31 occasional (7.5%) HP:0002032
43 abnormality of the outer ear 55 Very frequent (99-80%)
44 progressive microcephaly 31 HP:0000253
45 mandibulofacial dysostosis 31 HP:0005321

Drugs & Therapeutics for Mandibulofacial Dysostosis, Guion-Almeida Type

Search Clinical Trials , NIH Clinical Center for Mandibulofacial Dysostosis, Guion-Almeida Type

Genetic Tests for Mandibulofacial Dysostosis, Guion-Almeida Type

Genetic tests related to Mandibulofacial Dysostosis, Guion-Almeida Type:

# Genetic test Affiliating Genes
1 Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate 28 EFTUD2

Anatomical Context for Mandibulofacial Dysostosis, Guion-Almeida Type

MalaCards organs/tissues related to Mandibulofacial Dysostosis, Guion-Almeida Type:

38
Skin, Heart, Trachea, Bone

Publications for Mandibulofacial Dysostosis, Guion-Almeida Type

Articles related to Mandibulofacial Dysostosis, Guion-Almeida Type:

# Title Authors Year
1
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. ( 29381487 )
2018

Variations for Mandibulofacial Dysostosis, Guion-Almeida Type

UniProtKB/Swiss-Prot genetic disease variations for Mandibulofacial Dysostosis, Guion-Almeida Type:

71
# Symbol AA change Variation ID SNP ID
1 EFTUD2 p.Arg262Trp VAR_067580 rs387906877
2 EFTUD2 p.Cys476Arg VAR_067581
3 EFTUD2 p.Leu637Arg VAR_067582 rs387906879

ClinVar genetic disease variations for Mandibulofacial Dysostosis, Guion-Almeida Type:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFTUD2 NM_004247.3(EFTUD2): c.784C> T (p.Arg262Trp) single nucleotide variant Pathogenic rs387906877 GRCh37 Chromosome 17, 42953387: 42953387
2 EFTUD2 NM_004247.3(EFTUD2): c.2770C> T (p.Gln924Ter) single nucleotide variant Pathogenic rs387906878 GRCh37 Chromosome 17, 42929131: 42929131
3 EFTUD2 NM_004247.3(EFTUD2): c.1759_1760delGT (p.Val587Tyrfs) deletion Pathogenic rs879253725 GRCh37 Chromosome 17, 42937373: 42937374
4 EFTUD2 NM_004247.3(EFTUD2): c.2493C> A (p.Tyr831Ter) single nucleotide variant Pathogenic rs879253726 GRCh37 Chromosome 17, 42930732: 42930732
5 EFTUD2 NM_004247.3(EFTUD2): c.1910T> G (p.Leu637Arg) single nucleotide variant Pathogenic rs387906879 GRCh37 Chromosome 17, 42936500: 42936500
6 EFTUD2 NM_004247.3(EFTUD2): c.2496C> G (p.Tyr832Ter) single nucleotide variant Pathogenic rs879253727 GRCh37 Chromosome 17, 42930729: 42930729
7 EFTUD2 NM_004247.3(EFTUD2): c.623A> G (p.His208Arg) single nucleotide variant Pathogenic rs397515431 GRCh37 Chromosome 17, 42957003: 42957003
8 EFTUD2 NM_004247.3(EFTUD2): c.2823+1del deletion Pathogenic rs879253728 GRCh37 Chromosome 17, 42929077: 42929077
9 EFTUD2 NM_004247.3(EFTUD2): c.764dupT (p.Cys256Valfs) duplication Pathogenic rs794729651 GRCh37 Chromosome 17, 42953407: 42953407
10 EFTUD2 NM_004247.3(EFTUD2): c.1297_1298delAT (p.Met433Valfs) deletion Pathogenic rs797045551 GRCh37 Chromosome 17, 42941138: 42941139
11 EFTUD2 NM_004247.3(EFTUD2): c.1149+1G> C single nucleotide variant Pathogenic rs797045550 GRCh38 Chromosome 17, 44867806: 44867806
12 EFTUD2 NM_004247.3(EFTUD2): c.2045+2T> G single nucleotide variant Likely pathogenic rs863224868 GRCh37 Chromosome 17, 42934441: 42934441
13 EFTUD2 NM_004247.3(EFTUD2): c.1775_1779delTGGAG (p.Val592Alafs) deletion Pathogenic rs1135401812 GRCh37 Chromosome 17, 42937354: 42937358
14 EFTUD2 NM_004247.3(EFTUD2): c.2198G> A (p.Trp733Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42931985: 42931985
15 EFTUD2 NM_004247.3(EFTUD2): c.2551delG (p.Ala851Profs) deletion Likely pathogenic GRCh37 Chromosome 17, 42930674: 42930674

Expression for Mandibulofacial Dysostosis, Guion-Almeida Type

Search GEO for disease gene expression data for Mandibulofacial Dysostosis, Guion-Almeida Type.

Pathways for Mandibulofacial Dysostosis, Guion-Almeida Type

Pathways related to Mandibulofacial Dysostosis, Guion-Almeida Type according to KEGG:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040

GO Terms for Mandibulofacial Dysostosis, Guion-Almeida Type

Sources for Mandibulofacial Dysostosis, Guion-Almeida Type

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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