acromelic frontonasal dysostosis
MeSH: C535657ORPHA: 1827
Overview
dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations
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 acromelic frontonasal dysostosis, sourced from HPO and Orphanet clinical annotations.
Large fontanellesBrachycephalyHypertelorismBroad nasal tipBifid nasal tipTelecanthusIntellectual disabilityGlobal developmental delayAgenesis of corpus callosumTalipes equinovarusPreaxial foot polydactylyAbnormality of the glabellaEncephaloceleMeningoceleMidline central nervous system lipomasAbnormal toenail morphologyMedian cleft palateThick nasal alaeBifid noseMedian cleft upper lipVentriculomegalyChoroid plexus cystHypoplasia of the olfactory bulbCryptorchidismWide mouthPtosisMyopiaSeizureLarge sella turcicaUpper airway obstructionPatellar hypoplasiaAplasia/Hypoplasia of the tibiaRetrocerebellar cystAnterior pituitary hypoplasiaHypopituitarismGlaucomaDermoid cyst
Classification & Codes
MeSH Code
C535657Orphanet Code
ORPHA:1827acromelic frontonasal dysostosis
| MeSH | C535657 |
| Orphanet | ORPHA:1827 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO