Perinatal lethal bent bone dysplasia

disorder

SNOMED 778008009CUI C4755261

Overview

Perinatal lethal bent bone dysplasia 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.

Abnormal periosteum morphology

Very frequent (80-99%)HP:0030313

Abnormality of the auricle

Very frequent (80-99%)HP:0000356

Bell-shaped chest

Very frequent (80-99%)HP:0001591

Brachydactyly

Very frequent (80-99%)HP:0001156

Craniosynostosis of coronal suture

Very frequent (80-99%)HP:0004440

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Extramedullary hematopoiesis

Very frequent (80-99%)HP:0001978

Flat midface

Very frequent (80-99%)HP:0011800

Frontal suture depression

Very frequent (80-99%)HP:0011223

Gum enlargement

Very frequent (80-99%)HP:0000212

Hirsutism

Very frequent (80-99%)HP:0001007

Hypoplastic ischii

Very frequent (80-99%)HP:0003175

Incomplete ossification of pubis

Very frequent (80-99%)HP:0030042

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Low-set ears

Very frequent (80-99%)HP:0000369

Megalocornea

Very frequent (80-99%)HP:0000485

Natal tooth

Very frequent (80-99%)HP:0000695

Osteopenia

Very frequent (80-99%)HP:0000938

Overfolding of superior helix

Very frequent (80-99%)HP:0004453

Prominent clitoris

Very frequent (80-99%)HP:0008665

Short clavicles

Very frequent (80-99%)HP:0000894

Skull soft on palpation

Very frequent (80-99%)HP:0005474

Static congenital hemeralopia

Very frequent (80-99%)HP:0007642

Steep acetabular roof

Very frequent (80-99%)HP:0010455

Abnormality of the lower limb

Occasional (5-29%)HP:0002814

Bowed lower limbs

Occasional (5-29%)HP:0002979

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital anomaly of bone and joint(parent)

Craniosynostosis syndrome(parent)

Bent bone dysplasia group(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 778008009
UMLS CUI: C4755261
Fully Specified Name: Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.