isolated brachycephaly

ORPHA: 35099

Overview

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges

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 isolated brachycephaly, sourced from HPO and Orphanet clinical annotations.

BrachycephalyHypertelorismBroad foreheadHearing impairmentProptosisBrachydactylyIntellectual disabilityIncreased intracranial pressureMetacarpal synostosisUnderdeveloped supraorbital ridgesMidface retrusion

Classification & Codes

Orphanet Code

ORPHA:35099
isolated brachycephaly
OrphanetORPHA:35099
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO