Ulna fibula ray defect and brachydactyly syndrome

disorder

SNOMED 719843001CUI C4304397

Overview

Ulna fibula ray defect and brachydactyly 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.

Growth failure

Very frequent (80-99%)HP:0001510

Brachydactyly

Frequent (30-79%)HP:0001156

Decreased body height

Frequent (30-79%)HP:0004322

Hypoplasia or unilateral/bilateral absence of ulna

Frequent (30-79%)HP:0006495

Hypoplastic/aplastic fibulae

Frequent (30-79%)HP:0006492

Hypoplastic/small little finger

Frequent (30-79%)HP:0009237

Zygomatic flattening

Frequent (30-79%)HP:0000272

Atria septal defect

Occasional (5-29%)HP:0001631

Foot, talipes equinovarus

Occasional (5-29%)HP:0001762

Hemangiomata

Occasional (5-29%)HP:0001028

Postaxial oligodactyly

Occasional (5-29%)HP:0006210

Small feet

Occasional (5-29%)HP:0001773

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Brachydactyly(parent)

Dysostosis(parent)

Congenital anomaly of ulna(parent)

Congenital anomaly of fibula(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Congenital dysplasia of lower extremity(parent)

Quick Facts

SNOMED CT: 719843001
UMLS CUI: C4304397
Fully Specified Name: Ulna fibula ray defect and brachydactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.