Thakker-Donnai syndrome
ORPHA: 1780
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 Thakker-Donnai syndrome, sourced from HPO and Orphanet clinical annotations.
HydronephrosisRectovaginal fistulaNarrow mouthHypertelorismPosteriorly rotated earsMacrotiaBulbous noseAnteverted naresWebbed neckShort neckUpslanted palpebral fissureLong palpebral fissureCongenital diaphragmatic herniaHypotoniaAgenesis of corpus callosumCommunicating hydrocephalusIntrauterine growth retardationVentricular septal defectTetralogy of FallotTransposition of the great arteriesAnal atresiaTracheoesophageal fistulaDownturned corners of mouthHemivertebraeCervical C2/C3 vertebral fusion
Classification & Codes
Orphanet Code
ORPHA:1780Thakker-Donnai syndrome
| Orphanet | ORPHA:1780 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO