Chondrodysplasia with joint dislocations gPAPP type

disorder

SNOMED 782882009CUI C3279757

Overview

Chondrodysplasia with joint dislocations gPAPP 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.

Cleft of palate

Always present (100%)HP:0000175

Decreased projection of lower jaw

Always present (100%)HP:0000347

Dislocated patellae

Always present (100%)HP:0002999

Brachydactyly

Frequent (30-79%)HP:0001156

Decreased body height

Frequent (30-79%)HP:0004322

Dislocations of the knees

Frequent (30-79%)HP:0004976

Flat facial shape

Frequent (30-79%)HP:0012368

Fusion of hamate and capitate

Frequent (30-79%)HP:0001241

High forehead

Frequent (30-79%)HP:0000348

Hypoacusis

Frequent (30-79%)HP:0000365

Narrow intervertebral disc spaces

Frequent (30-79%)HP:0002945

Shortened long bones of hand

Frequent (30-79%)HP:0010049

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Craniosynostosis of coronal suture

Occasional (5-29%)HP:0004440

Genu valga

Occasional (5-29%)HP:0002857

Hitchhiker thumb

Occasional (5-29%)HP:0001234

Irregular epiphyses of the metacarpals

Occasional (5-29%)HP:0009190

Limited forearm extension

Occasional (5-29%)HP:0001377

Prominent eyes

Occasional (5-29%)HP:0000520

Radial-head subluxation

Occasional (5-29%)HP:0003048

Recurrent patellar dislocation

Occasional (5-29%)HP:0005001

Short limbs

Occasional (5-29%)HP:0009826

shortened long tubular bones

Occasional (5-29%)HP:0003026

Hyperphalangy of the 4th finger

HP:6000865

Narrow mouth

HP:0000160

Nasal hypoplasia

HP:0003196

Short toes

HP:0001831

Small feet

HP:0001773

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Multiple dislocations with dysplasia(parent)

Hereditary disorder of musculoskeletal system(parent)

Chondrodysplasia(parent)

Developmental hereditary disorder(parent)

BI - Bone injury(parent)

Quick Facts

SNOMED CT: 782882009
UMLS CUI: C3279757
Fully Specified Name: Chondrodysplasia with joint dislocations gPAPP type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.