X-linked mandibulofacial dysostosis

Also known as: Mandibulofacial dysostosis, Toriello type; X-linked branchial arch syndrome; X-linked mandibulofacial dysostosis with limb anomalies

Definition

Orphanet

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.

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Symptoms

Medical Term Other Names Description
Malar flattening Hypotrophic malar bone, Malar hypoplasia, Decreased size of malar bone, Zygomatic flattening, Underdevelopment of malar bone, Depressed malar region [more] Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Pectus excavatum Funnel chest A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Downslanted palpebral fissures Downslanting palpebral fissure, Downward slanted palpebral fissures, Antimongoloid slant of palpebral fissures, Downward slanting palpebral fissures, Down-slanting palpebral fissure, Downward slanting of the opening between the eyelids, Antimongoloid slanted palpebral fissures, Palpebral fissures down-slanted, Antimongoloid eye slant [more] The palpebral fissure inclination is more than two standard deviations below the mean.
Micrognathia Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Mandibulofacial dysostosis Treacher collins syndrome A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.
High, narrow palate Narrow and high arched palate, High arched palate, Narrow, high-arched roof of mouth, Narrow, highly arched palate, Gothic palate, High vaulted palate, Narrow, highly arched roof of mouth [more] The presence of a high and narrow palate.
Protruding ear Prominent ears Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Bilateral cryptorchidism Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Cryptorchidism Undescended testes, Undescended testis, Cryptorchism [more] Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.

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