X-linked dominant chondrodysplasia, Chassaing-Lacombe type

ORPHA: 163966

Contents

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

Overview

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males

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 X-linked dominant chondrodysplasia, Chassaing-Lacombe type, sourced from HPO and Orphanet clinical annotations.

Wide mouthHydrocephalusShort philtrumMicrognathiaLow-set earsDepressed nasal ridgeMicrophthalmiaThin ribsPlatyspondylyHyperkeratosisMild intellectual disabilityCerebellar hypoplasiaIntrauterine growth retardationShort footFrontal bossingHypoplastic iliac wingShort noseShort palmShort statureMetaphyseal chondrodysplasiaMetaphyseal cupping of metacarpalsAbnormality of the calcaneusRhizomelia

Classification & Codes

Orphanet Code

ORPHA:163966

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Orphanet	`ORPHA:163966`
Treatments	0 drug(s)
Symptoms on record	23 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO