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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.
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.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.

Recent clinical studies

Diagnosis

Ensink RJ, Brunner HG, Cremers CW
Genet Couns 1997;8(4):285-90. PMID: 9457496
Fryns JP, Bonhomme A, Van den Berghe H
Genet Couns 1996;7(2):147-51. PMID: 8831135
Melnick M, Eastman JR
Birth Defects Orig Artic Ser 1977;13(3B):39-44. PMID: 890098

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