Young–Madders syndrome
MeSH: C535829ORPHA: 2166
Overview
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)
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 Young–Madders syndrome, sourced from HPO and Orphanet clinical annotations.
MicrophthalmiaHypotelorismPostaxial hand polydactylyHypoplasia of penisHypoplasia of the premaxillaCryptorchidismHypospadiasAmbiguous genitaliaCleft palateOrofacial cleftHydrocephalusMicrocephalyAdrenal hypoplasiaAbnormality of the hypothalamus-pituitary axisHypotoniaHoloprosencephalyAbnormal cardiac septum morphologyAnal atresiaAbnormal lung lobationThyroid hypoplasiaAplasia/Hypoplasia of the corpus callosumAbnormal cardiovascular system morphologyNarrow mouthMicrognathiaCerebellar hypoplasiaPosteriorly rotated earsUmbilical herniaOmphalocelePolyhydramniosTalipesEncephaloceleIntestinal malrotationRenal hypoplasia/aplasiaCyclopiaAbnormal localization of kidneyAbsent nares
Classification & Codes
MeSH Code
C535829Orphanet Code
ORPHA:2166Young–Madders syndrome
| MeSH | C535829 |
| Orphanet | ORPHA:2166 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO