Mandibulofacial dysostosis, guion-almeida type

Preferred Label : Mandibulofacial dysostosis, guion-almeida type;

Symbol : MFDGA;

CISMeF acronym : MFDGA; MFDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MFDM; Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate; Mandibulofacial dysostosis with microcephaly;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the elongation factor Tu GTP-binding domain-containing 2 gene (EFTUD2, 603892.0001);

Prefixed ID : #610536;

Details

Origin ID

610536;

UMLS CUI

C1864652;

Automatic exact mappings (from CISMeF team)
- Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MeSH concept]
Currated CISMeF NLP mapping
- Mandibulofacial dysostosis with microcephaly (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis-microcephaly syndrome [ORDO Disease]
- growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MeSH Supplementary Concept]
- mandibulofacial dysostosis, Guion-Almeida type [DO Concept]
DO Cross reference
- mandibulofacial dysostosis, Guion-Almeida type [DO Concept]
Genes related to phenotype
- Elongation factor tu gtp-binding domain-containing 2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Atresia of the external auditory canal [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Deep philtrum [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Esophageal atresia [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibulofacial dysostosis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Overfolded helix [HPO term]
- Preauricular skin tag [HPO term]
- Preaxial hand polydactyly [HPO term]
- Progressive microcephaly [HPO term]
- Prominent philtrum [HPO term]
- Proximal placement of thumb [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Slender finger [HPO term]
- Speech delay [HPO term]
- Telecanthus [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Mandibulofacial dysostosis-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MeSH concept]
- Mandibulofacial dysostosis with microcephaly (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis-microcephaly syndrome [ORDO Disease]
- growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MeSH Supplementary Concept]
- mandibulofacial dysostosis, Guion-Almeida type [DO Concept]

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