Hartsfield-Bixler-Demyer syndrome
MeSH: C564484ORPHA: 2117
Overview
human disease
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 Hartsfield-Bixler-Demyer syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateHypertelorismDownslanted palpebral fissuresTelecanthusPtosisMicrophthalmiaCraniosynostosisIntrauterine growth retardationEncephaloceleRespiratory insufficiencyDepressed nasal bridgeLobar holoprosencephalyAplasia/Hypoplasia of the corpus callosumNon-midline cleft of the upper lipSplit handAplasia/Hypoplasia of the radiusPosteriorly rotated ears
Classification & Codes
MeSH Code
C564484Orphanet Code
ORPHA:2117Hartsfield-Bixler-Demyer syndrome
| MeSH | C564484 |
| Orphanet | ORPHA:2117 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO