Grebe syndrome

disorder

SNOMED 77542002CUI C0265260

Overview

Grebe 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.

Acromesomelia

Always present (100%)HP:0003086

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Aplasia of the middle phalanges of the toes

Very frequent (80-99%)HP:0100387

Aplastic/hypoplastic metacarpals

Very frequent (80-99%)HP:0005914

Bowed long bones

Very frequent (80-99%)HP:0006487

Brachydactyly

Very frequent (80-99%)HP:0001156

Cancer of connective tissue

Very frequent (80-99%)HP:0100242

Dwarfism, short-limbed

Very frequent (80-99%)HP:0008873

Fusion of wrist bones

Very frequent (80-99%)HP:0005048

Micromelia

Very frequent (80-99%)HP:0002983

Short toes

Very frequent (80-99%)HP:0001831

Small feet

Very frequent (80-99%)HP:0001773

Stiff joint

Very frequent (80-99%)HP:0001387

Tarsal bone synostosis

Very frequent (80-99%)HP:0008368

Aplastic/hypoplastic thumbs

Frequent (30-79%)HP:0009601

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Short fibula

Frequent (30-79%)HP:0003038

Short skankbone

Frequent (30-79%)HP:0005736

Absent or hypoplastic metatarsal

HP:0001964

Distal tibiofibular synostosis

HP:6000650

Fibular torsion

HP:6000921

Flexion contractures

HP:0001371

Humeral hypoplasia

HP:0005792

Hypoplasia of the ulna

HP:0003022

Mental-retardation

Excluded (<1%)HP:0001249

Pes valgus

HP:0008081

Phalangeal hypoplasia

HP:0009803

Short femur

HP:0003097

Shortening of radius

HP:0002984

Small to absent patellae

HP:0006498

Related Conditions

Acromesomelic dysplasia syndrome(parent)

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

Congenital anomaly of limb(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 77542002
UMLS CUI: C0265260
Fully Specified Name: Grebe syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.