Cousin–Walbraum–Cegarra syndrome

ORPHA: 93333

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

medical condition

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 Cousin–Walbraum–Cegarra syndrome, sourced from HPO and Orphanet clinical annotations.

MacrocephalyShort neckHypoplastic scapulaeHypoplastic iliaBrachydactylyCongenital hip dislocationElbow flexion contractureHumeroradial synostosisShort femurAbnormality of the joint spaces of the elbowMesomelic leg shorteningLow-set earsAbnormal skull base morphologyShort statureHypertelorismHearing impairmentAbnormal pinna morphologyStenosis of the external auditory canalStrabismusDeeply set eyeBlepharophimosisFrontal bossingLow posterior hairlineRedundant neck skin

Classification & Codes

Orphanet Code

ORPHA:93333

Cousin–Walbraum–Cegarra syndrome

Orphanet	`ORPHA:93333`
Treatments	0 drug(s)
Symptoms on record	24 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO