Rhizomelic chondrodysplasia punctata type 2

disorder

SNOMED 1003860009CUI C1857242

Overview

Rhizomelic chondrodysplasia punctata type 2 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.

Cataract

Always present (100%)HP:0000518

Central hypotonia

Always present (100%)HP:0001252

coronal cleft of vertebrae

Always present (100%)HP:0003417

Decreased body height

Always present (100%)HP:0004322

Decreased projection of midface

Always present (100%)HP:0011800

Disproportionate short stature

Always present (100%)HP:0003498

Double ring sign

Always present (100%)HP:0000609

Flexion contractures of hips

Always present (100%)HP:0003273

Inguinal hernia

Always present (100%)HP:0000023

Knee contractures

Always present (100%)HP:0034671

Mental retardation, severe

Always present (100%)HP:0010864

Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts

Always present (100%)HP:6000426

Reduced circulating plasmalogen concentration

Always present (100%)HP:4000165

Rhizomelic limb shortening

Always present (100%)HP:0008905

Stippled calcification proximal humeral epiphyses

Always present (100%)HP:0008838

Stippling of the epiphyses

Always present (100%)HP:0010655

Submucous cleft hard palate

Always present (100%)HP:0000176

Tetrology of fallot

Always present (100%)HP:0001636

Zonular cataract

Always present (100%)HP:0010920

Abnormality of pelvic girdle bone morphology

HP:0002644

Broad flat nasal bridge

HP:0000431

Calcific stippling

HP:0002832

Concave bridge of nose

HP:0005280

Decreased projection of mandible

HP:0000347

Decreased size of cranium

HP:0000252

Flexion contractures

HP:0001371

Generalised decreased muscle tone

HP:0001290

High arched palate

HP:0000218

High forehead

HP:0000348

Humeral hypoplasia

HP:0005792

Related Conditions

Rhizomelic chondrodysplasia punctata syndrome(parent)

Quick Facts

SNOMED CT: 1003860009
UMLS CUI: C1857242
Fully Specified Name: Rhizomelic chondrodysplasia punctata type 2 (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.