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Mandibulofacial dysostosis-microcephaly syndrome
1 OMIM reference -
1 associated gene
23 connected diseases
29 signs/symptoms
Disease Type of connection
Retinitis pigmentosa
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Nager syndrome
Anaplastic ependymoma
Common variable immunodeficiency
Fibronectin glomerulopathy
Richieri Costa-Pereira syndrome
17q11 microdeletion syndrome
Angelman syndrome
Autoimmune polyendocrinopathy type 1
Estrogen resistance syndrome
Multiple endocrine neoplasia type 1
Pseudohypoaldosteronism type 2E
Usher syndrome type 3
Weaver syndrome
Young adult-onset Parkinsonism
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Papillary or follicular thyroid carcinoma
Severe combined immunodeficiency due to DNA-PKcs deficiency
Translocation renal cell carcinoma
Synonym(s):
- Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
- MFDM syndrome
- Mandibulofacial dysostosis, Guion-Almeida type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
EFTUD2 Q15029603892
Very frequent
- Antihelix anomaly
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Preauricular / branchial tags / appendages
- Prominent / bat ears
- Short stature / dwarfism / nanism
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tragus abnormal / absent
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Autosomal recessive inheritance
- Epicanthic folds
- External auditory canal atresia / stenosis / agenesis
- Folded helix
- Limited opening of the mouth
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Telecanthus / canthal dystopy
- Thick / wide ear lobe

Occasional
- Atrial septal defect / interauricular communication
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss