MCID: MND020
MIFTS: 31

Mandibulofacial Dysostosis, Guion-Almeida Type

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

Aliases & Classifications for Mandibulofacial Dysostosis, Guion-Almeida Type

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

Name: Mandibulofacial Dysostosis, Guion-Almeida Type 57 12 24 53 25 59 13
Mandibulofacial Dysostosis with Microcephaly 57 12 24 53 25 75 37
Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate 57 29 6 73
Mfdga 57 24 53 25
Mfdm 57 53 25 75
Mandibulofacial Dysostosis-Microcephaly Syndrome 53 59
Mfdm Syndrome 53 59
Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome 53
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate 53
Growth and Mental Retardation Mandibulofacial Dysostosis Microcephaly and Cleft Palate 75
Mandibulofacial Dysostosis with Microcephaly; Mfdm 57
Dysostosis, Mandibulofacial, Guion-Almeida Type ) 40

Characteristics:

Orphanet epidemiological data:

59
mandibulofacial dysostosis-microcephaly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation resulting in haploinsufficiency of eftud2


HPO:

32
mandibulofacial dysostosis, guion-almeida type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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.

MalaCards based summary : Mandibulofacial Dysostosis, Guion-Almeida Type, also known as mandibulofacial dysostosis with microcephaly, is related to microcephaly and dysostosis. 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, and related phenotypes are malar flattening and low-set ears

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,

Genetics Home Reference : 25 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.

OMIM : 57 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 : 75 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.

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 microcephaly 10.5
2 dysostosis 10.4
3 cleft palate, isolated 10.3

Symptoms & Phenotypes for Mandibulofacial Dysostosis, Guion-Almeida Type

Symptoms via clinical synopsis from OMIM:

57
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 Gastrointestinal:
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:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
6 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
10 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
11 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
12 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
13 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
14 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
15 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
16 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
17 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
18 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
19 overfolded helix 59 32 frequent (33%) Frequent (79-30%) HP:0000396
20 preauricular skin tag 59 32 hallmark (90%) Very frequent (99-80%) HP:0000384
21 preaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001177
22 large earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0009748
23 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
24 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
25 postnatal microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005484
26 accessory oral frenulum 59 32 frequent (33%) Frequent (79-30%) HP:0000191
27 morphological abnormality of the middle ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0008609
28 absent tragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0011268
29 underdeveloped tragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0011272
30 global developmental delay 32 HP:0001263
31 microcephaly 32 HP:0000252
32 anteverted nares 32 HP:0000463
33 feeding difficulties in infancy 32 HP:0008872
34 respiratory distress 32 HP:0002098
35 downslanted palpebral fissures 32 HP:0000494
36 choanal atresia 32 HP:0000453
37 ventricular septal defect 32 occasional (7.5%) HP:0001629
38 deep philtrum 32 HP:0002002
39 midface retrusion 32 HP:0011800
40 slender finger 32 HP:0001238
41 proximal placement of thumb 32 occasional (7.5%) HP:0009623
42 esophageal atresia 32 occasional (7.5%) HP:0002032
43 abnormality of the outer ear 59 Very frequent (99-80%)
44 progressive microcephaly 32 HP:0000253
45 mandibulofacial dysostosis 32 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 29 EFTUD2

Anatomical Context for Mandibulofacial Dysostosis, Guion-Almeida Type

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

41
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:

75
# 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 32)
# 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.784C> T (p.Arg262Trp) single nucleotide variant Pathogenic rs387906877 GRCh38 Chromosome 17, 44876019: 44876019
3 EFTUD2 NM_004247.3(EFTUD2): c.2770C> T (p.Gln924Ter) single nucleotide variant Pathogenic rs387906878 GRCh37 Chromosome 17, 42929131: 42929131
4 EFTUD2 NM_004247.3(EFTUD2): c.2770C> T (p.Gln924Ter) single nucleotide variant Pathogenic rs387906878 GRCh38 Chromosome 17, 44851763: 44851763
5 EFTUD2 NM_004247.3(EFTUD2): c.1759_1760delGT (p.Val587Tyrfs) deletion Pathogenic rs879253725 GRCh37 Chromosome 17, 42937373: 42937374
6 EFTUD2 NM_004247.3(EFTUD2): c.1759_1760delGT (p.Val587Tyrfs) deletion Pathogenic rs879253725 GRCh38 Chromosome 17, 44860005: 44860006
7 EFTUD2 NM_004247.3(EFTUD2): c.2493C> A (p.Tyr831Ter) single nucleotide variant Pathogenic rs879253726 GRCh37 Chromosome 17, 42930732: 42930732
8 EFTUD2 NM_004247.3(EFTUD2): c.2493C> A (p.Tyr831Ter) single nucleotide variant Pathogenic rs879253726 GRCh38 Chromosome 17, 44853364: 44853364
9 EFTUD2 NM_004247.3(EFTUD2): c.1910T> G (p.Leu637Arg) single nucleotide variant Pathogenic rs387906879 GRCh37 Chromosome 17, 42936500: 42936500
10 EFTUD2 NM_004247.3(EFTUD2): c.1910T> G (p.Leu637Arg) single nucleotide variant Pathogenic rs387906879 GRCh38 Chromosome 17, 44859132: 44859132
11 EFTUD2 NM_004247.3(EFTUD2): c.2496C> G (p.Tyr832Ter) single nucleotide variant Pathogenic rs879253727 GRCh37 Chromosome 17, 42930729: 42930729
12 EFTUD2 NM_004247.3(EFTUD2): c.2496C> G (p.Tyr832Ter) single nucleotide variant Pathogenic rs879253727 GRCh38 Chromosome 17, 44853361: 44853361
13 EFTUD2 NM_004247.3(EFTUD2): c.623A> G (p.His208Arg) single nucleotide variant Pathogenic rs397515431 GRCh37 Chromosome 17, 42957003: 42957003
14 EFTUD2 NM_004247.3(EFTUD2): c.623A> G (p.His208Arg) single nucleotide variant Pathogenic rs397515431 GRCh38 Chromosome 17, 44879635: 44879635
15 EFTUD2 NM_004247.3(EFTUD2): c.2823+1del deletion Pathogenic rs879253728 GRCh37 Chromosome 17, 42929077: 42929077
16 EFTUD2 NM_004247.3(EFTUD2): c.2823+1del deletion Pathogenic rs879253728 GRCh38 Chromosome 17, 44851709: 44851709
17 EFTUD2 NM_004247.3(EFTUD2): c.764dupT (p.Cys256Valfs) duplication Pathogenic rs794729651 GRCh37 Chromosome 17, 42953407: 42953407
18 EFTUD2 NM_004247.3(EFTUD2): c.764dupT (p.Cys256Valfs) duplication Pathogenic rs794729651 GRCh38 Chromosome 17, 44876039: 44876039
19 EFTUD2 NM_004247.3(EFTUD2): c.1297_1298delAT (p.Met433Valfs) deletion Pathogenic rs797045551 GRCh37 Chromosome 17, 42941138: 42941139
20 EFTUD2 NM_004247.3(EFTUD2): c.1297_1298delAT (p.Met433Valfs) deletion Pathogenic rs797045551 GRCh38 Chromosome 17, 44863770: 44863771
21 EFTUD2 NM_004247.3(EFTUD2): c.1149+1G> C single nucleotide variant Pathogenic rs797045550 GRCh37 Chromosome 17, 42945174: 42945174
22 EFTUD2 NM_004247.3(EFTUD2): c.1149+1G> C single nucleotide variant Pathogenic rs797045550 GRCh38 Chromosome 17, 44867806: 44867806
23 EFTUD2 NM_004247.3(EFTUD2): c.2045+2T> G single nucleotide variant Likely pathogenic rs863224868 GRCh37 Chromosome 17, 42934441: 42934441
24 EFTUD2 NM_004247.3(EFTUD2): c.2045+2T> G single nucleotide variant Likely pathogenic rs863224868 GRCh38 Chromosome 17, 44857073: 44857073
25 EFTUD2 NM_004247.3(EFTUD2): c.1775_1779delTGGAG (p.Val592Alafs) deletion Pathogenic rs1135401812 GRCh37 Chromosome 17, 42937354: 42937358
26 EFTUD2 NM_004247.3(EFTUD2): c.1775_1779delTGGAG (p.Val592Alafs) deletion Pathogenic rs1135401812 GRCh38 Chromosome 17, 44859986: 44859990
27 EFTUD2 NM_004247.3(EFTUD2): c.2198G> A (p.Trp733Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42931985: 42931985
28 EFTUD2 NM_004247.3(EFTUD2): c.2198G> A (p.Trp733Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44854617: 44854617
29 EFTUD2 NM_004247.3(EFTUD2): c.2551delG (p.Ala851Profs) deletion Likely pathogenic GRCh37 Chromosome 17, 42930674: 42930674
30 EFTUD2 NM_004247.3(EFTUD2): c.2551delG (p.Ala851Profs) deletion Likely pathogenic GRCh38 Chromosome 17, 44853306: 44853306
31 EFTUD2 NM_004247.3(EFTUD2): c.1567delC (p.Gln523Argfs) deletion Pathogenic GRCh38 Chromosome 17, 44862753: 44862753
32 EFTUD2 NM_004247.3(EFTUD2): c.1567delC (p.Gln523Argfs) deletion Pathogenic GRCh37 Chromosome 17, 42940121: 42940121

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:

37
# 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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