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Kbg Syndrome (MONDO:0007846)

KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

MONDO:0007846

Internal:9182

Synonyms

KBG syndrome

short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome

KBGS

macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies

macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies

short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies

Mapped terms

DOID:14780

GARD:0000082

ICD9:759.89

MEDGEN:66317

MESH:C537015

NORD:1322

OMIM:148050

Orphanet:2332

SCTID:711156009

UMLS:C0220687

icd11.foundation:465550090

Child terms

Unknown children.

Results

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