Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

Hemifacial hyperplasia
Synonyms

Hemifacial hypertrophy
Definitions

Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
ID

http://www.orpha.net/ORDO/Orphanet_141145
alternative_term

Hemifacial hypertrophy
definition

Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145
has_inheritance

Not applicable
hasDbXref

ICD-10:Q67.4

OMIM:133900

UMLS:C1399354

ICD-11:LA52
label

Hemifacial hyperplasia
notation

ORPHA:141145
part_of

http://www.orpha.net/ORDO/Orphanet_156207
prefixIRI

ORDO:Orphanet_141145
prefLabel

Hemifacial hyperplasia
present_in

United States AND has_birth_prevalence_average_value : 1.16 AND has_birth_prevalence_range : 1-9 / 100 000
treeView

http://www.orpha.net/ORDO/Orphanet_156207
subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493
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