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Maxillofacial dysostosis

MedGen UID:: 320517
•Concept ID:: C1835088
•: Disease or Syndrome

Synonym:	Maxillofacial Dysostosis

Monarch Initiative:	MONDO:0007952
OMIM®:	155000

Definition

Maxillofacial dysostosis is a rare disorder characterized by maxillary hypoplasia, delayed onset of speech, and poor development of language skills without associated hearing loss. Occasional findings are downslanting palpebral fissures and minor auricle abnormalities (summary by Escobar et al., 1977). [from OMIM]

Clinical features

From HPO

Abnormal pinna morphology

MedGen UID:: 167800
•Concept ID:: C0857379
•: Congenital Abnormality

An abnormality of the pinna, which is also referred to as the auricle or external ear.

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Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

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Mandibular prognathia

MedGen UID:: 98316
•Concept ID:: C0399526
•: Finding

Abnormal prominence of the chin related to increased length of the mandible.

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Downslanted palpebral fissures

MedGen UID:: 98391
•Concept ID:: C0423110
•: Finding

The palpebral fissure inclination is more than two standard deviations below the mean.

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Abnormality of head or neck
- Downslanted palpebral fissures
- Mandibular prognathia
Abnormality of the nervous system
- Delayed speech and language development
Ear malformation
- Abnormal pinna morphology

Recent clinical studies

Diagnosis

A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.

Ensink RJ, Brunner HG, Cremers CW
Genet Couns 1997;8(4):285-90. PMID: 9457496

Nager acrofacial dysostosis. An adult male with severe neurological deficit.

Fryns JP, Bonhomme A, Van den Berghe H
Genet Couns 1996;7(2):147-51. PMID: 8831135

Autosomal dominant maxillofacial dysostosis.

Melnick M, Eastman JR
Birth Defects Orig Artic Ser 1977;13(3B):39-44. PMID: 890098

Supplemental Content

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Clinical resources

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Coriell Institute for Medical Research

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