Spondyloperipheral dysplasia with short ulna syndrome

disorder

SNOMED 763886009CUI C4706658

Overview

Spondyloperipheral dysplasia with short ulna syndrome 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.

Abnormality of the hip joints

Frequent (30-79%)HP:0001384

Abnormality of the vertebral endplates

Frequent (30-79%)HP:0005106

Absent pubic ossification in infancy

Frequent (30-79%)HP:0008788

Aplasia/hypoplasia involving bones of the extremities

Frequent (30-79%)HP:0045060

Cleft of palate

Frequent (30-79%)HP:0000175

Deafness

Frequent (30-79%)HP:0000365

Flat end part of bone

Frequent (30-79%)HP:0003071

Irregular end part of long bone

Frequent (30-79%)HP:0010582

Near sighted

Frequent (30-79%)HP:0000545

Short stature, severe disproportionate

Frequent (30-79%)HP:0003498

Short ulna

Frequent (30-79%)HP:0003022

Type E brachydactyly

Frequent (30-79%)HP:0005863

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Broad big toe

Occasional (5-29%)HP:0010055

Bullet vertebral body

Occasional (5-29%)HP:0003300

Flat head of thigh bone

Occasional (5-29%)HP:0008812

Flattened vertebral bodies

Occasional (5-29%)HP:0000926

Hip arthralgia

Occasional (5-29%)HP:0003365

Lens opacities

Occasional (5-29%)HP:0000518

Limited forearm extension

Occasional (5-29%)HP:0001377

Retinal detachment

Occasional (5-29%)HP:0000541

Short long bone of foot

Occasional (5-29%)HP:0010743

Talipes foot deformities

Occasional (5-29%)HP:0001883

Related Conditions

Congenital hypoplasia of ulna(parent)

Spondyloperipheral dysplasia(parent)

Quick Facts

SNOMED CT: 763886009
UMLS CUI: C4706658
Fully Specified Name: Spondyloperipheral dysplasia with short ulna syndrome (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.