X-linked dominant chondrodysplasia Chassaing Lacombe type

disorder

SNOMED 719837003CUI C4304401

Overview

X-linked dominant chondrodysplasia Chassaing Lacombe type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Cupping of wide portion of long bone of hand

Very frequent (80-99%)HP:0006028

Decreased body height

Very frequent (80-99%)HP:0004322

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hypoplastic hands

Very frequent (80-99%)HP:0004279

Hypoplastic iliac wing

Very frequent (80-99%)HP:0002866

Low-set ears

Very frequent (80-99%)HP:0000369

Metaphyseal chondrodysplasia

Very frequent (80-99%)HP:0005871

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Retruded nasal dorsum

Very frequent (80-99%)HP:0000457

Rhizomelic limb shortening

Very frequent (80-99%)HP:0008905

Small feet

Very frequent (80-99%)HP:0001773

Abnormal heel bone

Frequent (30-79%)HP:0008364

Mental retardation, mild

Frequent (30-79%)HP:0001256

Slender ribs

Frequent (30-79%)HP:0000883

Small for gestational age infant

Frequent (30-79%)HP:0001511

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Large mouth

Occasional (5-29%)HP:0000154

Small cerebellum

Occasional (5-29%)HP:0001321

Related Conditions

Chondrodysplasia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

X-linked dominant hereditary disease(parent)

Quick Facts

SNOMED CT: 719837003
UMLS CUI: C4304401
Fully Specified Name: X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.