KBG syndrome
MeSH: C537015ORPHA: 2332
Overview
syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with KBG syndrome, sourced from HPO and Orphanet clinical annotations.
Long philtrumMacrotiaProminent nasal bridgeUnderdeveloped nasal alaeAnteverted naresWebbed neckShort neckStrabismusTelecanthusThick eyebrowLong palpebral fissureSynophrysOligodontiaCervical ribsSingle transverse palmar creaseGlobal developmental delayWidely-spaced maxillary central incisorsMacrodontiaScoliosisCryptorchidismCleft palateThin upper lip vermilionMicrocephalyHypertelorismTriangular faceDelayed skeletal maturationThoracic kyphosisVertebral fusionShort statureBilateral conductive hearing impairmentAbnormal hair patternAbnormal skeletal morphologyFeeding difficultiesCutaneous syndactylyFinger clinodactylyRound faceSeizureEEG abnormalityPersistent open anterior fontanelleCongenital malformation of the left heart
Classification & Codes
MeSH Code
C537015Orphanet Code
ORPHA:2332KBG syndrome
| MeSH | C537015 |
| Orphanet | ORPHA:2332 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO