Fuhrmann syndrome

disorder

SNOMED 721296004CUI C1856728

Overview

Fuhrmann 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.

Bowed femura

Very frequent (80-99%)HP:0002980

Hypoplasia or unilateral/bilateral absence of ulna

Very frequent (80-99%)HP:0006495

Hypoplastic/aplastic fibulae

Very frequent (80-99%)HP:0006492

Radial bowing

Very frequent (80-99%)HP:0002986

Radial ray hypoplasia

Very frequent (80-99%)HP:0002984

Abnormal finger flexion crease

Frequent (30-79%)HP:0006143

Absent fingers

Frequent (30-79%)HP:0009380

Absent or hypoplastic metatarsal

Frequent (30-79%)HP:0001964

Absent/small fingers

Frequent (30-79%)HP:0006265

Absent/small little finger

Frequent (30-79%)HP:0006262

Absent/small thighbone

Frequent (30-79%)HP:0005613

Aplastic/hypoplastic metacarpals

Frequent (30-79%)HP:0005914

Congenital hip dislocations

Frequent (30-79%)HP:0001374

Decreased body height

Frequent (30-79%)HP:0004322

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Hypoplastic iliac wing

Frequent (30-79%)HP:0002866

Missing toes

Frequent (30-79%)HP:0001849

Patellar aplasia

Frequent (30-79%)HP:0006443

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Small pelvis

Frequent (30-79%)HP:0008839

Syndactyly of feet

Frequent (30-79%)HP:0001770

Ulnar Drift

Frequent (30-79%)HP:0009465

Partial syndactyly

Occasional (5-29%)HP:0006101

Absent fibulae

HP:0002990

Absent toenails (anonychia)

HP:0001802

Amenorrhea

HP:0000141

Clinodactyly

HP:0030084

Hypoplastic/absent phalanges

HP:0009767

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Congenital anomaly of limb(parent)

Recessive hereditary disorder (autosomal)(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721296004
UMLS CUI: C1856728
Fully Specified Name: Fuhrmann syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.