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GTR Home > Conditions/Phenotypes > Mandibulofacial dysostosis-microcephaly syndrome

Mandibulofacial dysostosis-microcephaly syndrome

Synonyms
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate; Mandibulofacial dysostosis, Guion-Almeida type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia, microcephaly (congenital or postnatal onset), intellectual disability (mild, moderate, or severe), malformations of the external ear, and hearing loss that is typically conductive. Associated craniofacial malformations may include cleft palate, choanal atresia, zygomatic arch cleft (identified on cranial CT scan), and facial asymmetry. Other relatively common findings (present in 25%-35% of individuals) can include cardiac anomalies, thumb anomalies, esophageal atresia/tracheoesophageal fistula, short stature, spine anomalies, and epilepsy.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Matthew Lines
Taila Hartley
Stella K MacDonald
view full author information

Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, EFTUD2
    Summary: elongation factor Tu GTP binding domain containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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