MCID: MND020
MIFTS: 32

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 54 23 50 24 25 56 13
Mandibulofacial Dysostosis with Microcephaly 23 50 24 25 71
Mfdga 23 50 24 25
Mfdm 50 25 71
Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate 29 69
Mandibulofacial Dysostosis-Microcephaly Syndrome 50 56
Mfdm Syndrome 50 56
Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome 50
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate 50
Growth and Mental Retardation Mandibulofacial Dysostosis Microcephaly and Cleft Palate 71

Characteristics:

Orphanet epidemiological data:

56
mandibulofacial dysostosis-microcephaly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
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:

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 : 50 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 microcephaly, and has symptoms including short stature, seizures and low-set ears. An important gene associated with Mandibulofacial Dysostosis, Guion-Almeida Type is EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2). Affiliated tissues include skin, heart and trachea.

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 : 54
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.

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:

id Related Disease Score Top Affiliating Genes
1 dysostosis 10.4
2 microcephaly 10.4
3 koolen-de vries syndrome 9.5 EFTUD2 UROD

Symptoms & Phenotypes for Mandibulofacial Dysostosis, Guion-Almeida Type

Symptoms via clinical synopsis from OMIM:

54

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

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

Head And Neck- Face:
micrognathia
midface hypoplasia
prominent philtrum
malar hypoplasia
buccal tags

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

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

Growth- Height:
short stature (of varying degrees)

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

Head And Neck- Ears:
low-set ears
dysplastic ears
overfolded helices
conductive hearing loss
microtia
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect (in some patients)

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

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

Respiratory:
breathing difficulties due to choanal atresia


Clinical features from OMIM:

610536

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

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
6 trigonocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000243
7 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
8 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
9 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
10 feeding difficulties 56 32 hallmark (90%) Very frequent (99-80%) HP:0011968
11 postnatal microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0005484
12 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
13 microtia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008551
14 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
15 preauricular skin tag 56 32 hallmark (90%) Very frequent (99-80%) HP:0000384
16 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
17 overfolded helix 56 32 frequent (33%) Frequent (79-30%) HP:0000396
18 abnormality of the antihelix 56 32 hallmark (90%) Very frequent (99-80%) HP:0009738
19 hypoplasia of the maxilla 56 32 hallmark (90%) Very frequent (99-80%) HP:0000327
20 conductive hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000405
21 upslanted palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0000582
22 preaxial hand polydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001177
23 large earlobe 56 32 frequent (33%) Frequent (79-30%) HP:0009748
24 atresia of the external auditory canal 56 32 frequent (33%) Frequent (79-30%) HP:0000413
25 accessory oral frenulum 56 32 frequent (33%) Frequent (79-30%) HP:0000191
26 morphological abnormality of the middle ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0008609
27 absent tragus 56 32 hallmark (90%) Very frequent (99-80%) HP:0011268
28 underdeveloped tragus 56 32 hallmark (90%) Very frequent (99-80%) HP:0011272
29 microcephaly 32 HP:0000252
30 choanal atresia 32 HP:0000453
31 atrial septal defect 32 occasional (7.5%) HP:0001631
32 anteverted nares 32 HP:0000463
33 global developmental delay 32 HP:0001263
34 respiratory distress 32 HP:0002098
35 ventricular septal defect 32 occasional (7.5%) HP:0001629
36 deep philtrum 32 HP:0002002
37 midface retrusion 32 HP:0011800
38 downslanted palpebral fissures 32 HP:0000494
39 esophageal atresia 32 occasional (7.5%) HP:0002032
40 feeding difficulties in infancy 32 HP:0008872
41 progressive microcephaly 32 HP:0000253
42 mandibulofacial dysostosis 32 HP:0005321
43 atria septal defect 56 Occasional (29-5%)
44 proximal placement of thumb 32 occasional (7.5%) HP:0009623
45 slender finger 32 HP:0001238
46 abnormality of the outer ear 56 Very frequent (99-80%)

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:

id Genetic test Affiliating Genes
1 Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate 29
2 Mandibulofacial Dysostosis, Guion-Almeida Type 24 EFTUD2
3 Mandibulofacial Dysostosis with Microcephaly 24 UROD

Anatomical Context for Mandibulofacial Dysostosis, Guion-Almeida Type

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

39
Skin, Heart, Trachea, Bone

Publications for Mandibulofacial Dysostosis, Guion-Almeida Type

Variations for Mandibulofacial Dysostosis, Guion-Almeida Type

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

71
id 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 14)
id 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

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

GO Terms for Mandibulofacial Dysostosis, Guion-Almeida Type

Sources for Mandibulofacial Dysostosis, Guion-Almeida Type

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