Chondrodysplasia punctata, X-linked dominant type

disorder

SNOMED 398958000CUI C0282102

Overview

Chondrodysplasia punctata, X-linked dominant 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.

Dermatopathy

Very frequent (80-99%)HP:0000951

Stippling of the epiphyses

Very frequent (80-99%)HP:0010655

Abnormality of the skull bones

Frequent (30-79%)HP:0000929

Abnormally ossified vertebrae

Frequent (30-79%)HP:0100569

Anomalous tracheal cartilage

Frequent (30-79%)HP:0004468

Anterior rib punctate calcifications

Frequent (30-79%)HP:0006619

Cataract

Frequent (30-79%)HP:0000518

Concave bridge of nose

Frequent (30-79%)HP:0005280

Decreased body height

Frequent (30-79%)HP:0004322

Frontal protuberance

Frequent (30-79%)HP:0002007

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Left and right leg differ in length or width

Frequent (30-79%)HP:0100559

Red scaly skin caused by inflammatory skin disease

Frequent (30-79%)HP:0001019

Rhizomelic limb shortening

Frequent (30-79%)HP:0008905

Scaling skin

Frequent (30-79%)HP:0040189

Scoliosis

Frequent (30-79%)HP:0002650

Unbalanced face

Frequent (30-79%)HP:0000324

Unequal size of arms

Frequent (30-79%)HP:0100560

Violaceous plaque

Frequent (30-79%)HP:0025474

Abnormal distribution of hair

Occasional (5-29%)HP:0010720

Abnormality of prenatal development or birth

Occasional (5-29%)HP:0001197

Alopecia areata

Occasional (5-29%)HP:0002232

Bilateral clubfeet

Occasional (5-29%)HP:0001776

Coarse hair texture

Occasional (5-29%)HP:0002208

Congenital lamellar ichthyosis

Occasional (5-29%)HP:0007479

Cornea of eye less than 10mm in diameter

Occasional (5-29%)HP:0000482

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Dislocated patellae

Occasional (5-29%)HP:0002999

Related Conditions

Chondrodysplasia punctata(parent)

X-linked dominant hereditary disease(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Disorder of cholesterol synthesis(parent)

Genodermatosis(parent)

Hereditary disorder of the integument(parent)

Metabolic bone disease(parent)

Quick Facts

SNOMED CT: 398958000
UMLS CUI: C0282102
Fully Specified Name: Chondrodysplasia punctata, X-linked dominant type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.