agnathia-otocephaly complex

MeSH: C562503ORPHA: 990

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 agnathia-otocephaly complex, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsNarrow mouthMicroglossiaAbnormality of the eyeAgenesis of corpus callosumAbnormal cranial nerve morphologyHoloprosencephalyPolyhydramniosSitus inversus totalisRespiratory distressAplasia/Hypoplasia of the cerebellumHypoplasia of penisCyclopiaAplasia/Hypoplasia involving the noseMandibular aplasiaNarrow internal auditory canalAbsent naresSynotiaAplasia/Hypoplasia of the eyebrow

Classification & Codes

MeSH Code

C562503

Orphanet Code

ORPHA:990
agnathia-otocephaly complex
MeSHC562503
OrphanetORPHA:990
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO