GTR Home > Conditions/Phenotypes > Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Summary

Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia; microcephaly (congenital or postnatal onset); malformations of the pinna, auditory canal, and/or middle ear (ossicles and semi-circular canals) with associated conductive hearing loss; and distinctive facial features (metopic ridge, up- or downslanting palpebral fissures, prominent glabella, broad nasal bridge, bulbous nasal tip, and everted lower lip). Associated craniofacial malformations may include cleft palate, choanal atresia, and facial asymmetry. Intellectual disability is a prominent feature. Major extracranial malformations include: esophageal atresia (~40%), congenital heart disease (~40%), and thumb abnormalities (~25%). Short stature is present in approximately one third of individuals. [from GeneReviews]

Available tests

11 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated 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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