Mandibulofacial dysostosis-microcephaly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE
MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
MFDM
MFDGA
Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
Mandibulofacial dysostosis, Guion-Almeida type
MFDM syndrome
Number of Symptoms 64
OrphanetNr: 79113
OMIM Id: 610536
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000453) Choanal atresia 76 / 7739
2
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
5
 (HPO:0002002) Deep philtrum 42 / 7739
6
 (HPO:0000452) Choanal stenosis 23 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
8
 (HPO:0005321) Mandibulofacial dysostosis 7 / 7739
9
 (HPO:0000253) Progressive microcephaly 37 / 7739
10
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
11
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
12
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
13
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
14
 (HPO:0000272) Malar flattening 277 / 7739
15
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
16
 (HPO:0000175) Cleft palate 349 / 7739
17
 (HPO:0004502) Bilateral choanal atresia 2 / 7739
18
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
19
 (HPO:0000463) Anteverted nares 305 / 7739
20
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
21
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
22
 (HPO:0000347) Micrognathia 426 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0009912) Abnormality of the tragus Very frequent [Orphanet] 12 / 7739
25
 (HPO:0000405) Conductive hearing impairment 164 / 7739
26
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
27
 (HPO:0000377) Abnormality of the pinna 111 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
30
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
31
 (HPO:0000396) Overfolded helix 21 / 7739
32
 (HPO:0008551) Microtia 98 / 7739
33
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
34
 (HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 62 / 7739
35
 (HPO:0009748) Large earlobe Frequent [Orphanet] 27 / 7739
36
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
37
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
38
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
39
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
40
 (HPO:0000750) Delayed speech and language development 197 / 7739
41
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
42
 (HPO:0001250) Seizures Occasional [Orphanet] Occasional [HPO:skoehler] 1245 / 7739
43
 (HPO:0001263) Global developmental delay 853 / 7739
44
 (HPO:0001238) Slender finger 23 / 7739
45
 (HPO:0100258) Preaxial polydactyly 39 / 7739
46
 (HPO:0009623) Proximal placement of thumb Occasional [HPO:skoehler] 50 / 7739
47
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
48
 (HPO:0002043) Esophageal stricture 7 / 7739
49
 (HPO:0010450) Esophageal stenosis 7 / 7739
50
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
51
 (HPO:0002032) Esophageal atresia rare [HPO:skoehler] 19 / 7739
52
 (HPO:0011968) Feeding difficulties 240 / 7739
53
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
54
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
55
 (HPO:0001629) Ventricular septal defect Occasional [HPO:skoehler] 316 / 7739
56
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
57
 (HPO:0002880) Respiratory difficulties 15 / 7739
58
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
59
 (OMIM) Buccal tags 1 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (OMIM) Hypoplasia of the upper part of the helix 1 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (OMIM) Severe speech delay 4 / 7739
64
 (OMIM) Breathing difficulties due to choanal atresia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Guion-Almeida et al. (2000) reported 2 Brazilian boys with mental and growth retardation, microcephaly, trigonocephaly, preauricular skin tags, and cleft palate. Guion-Almeida et al. (2006) reevaluated these patients and reported 2 additional patients, a Brazilian boy and girl. ...
Molecular genetics OMIM In 12 unrelated patients with mandibulofacial dysostosis with microcephaly, Lines et al. (2012) identified heterozygous de novo mutations in or deletions involving the EFTUD2 gene (see, e.g., 603892.0001-603892.0005). A range of mutations, including deletion, frameshift, splice site, nonsense, ...