Lissencephaly type 3 metacarpal bone dysplasia syndrome

disorder

SNOMED 718720007CUI C4305254

Overview

Lissencephaly type 3 metacarpal bone dysplasia 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.

Hydramnios

Always present (100%)HP:0001561

Intrauterine growth retardation, IUGR

Always present (100%)HP:0001511

Abnormal bone structure

Very frequent (80-99%)HP:0003330

Abnormal cartilage matrix

Very frequent (80-99%)HP:0008178

Abnormality of the basal ganglia

Very frequent (80-99%)HP:0002134

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Corpus callosum agenesis, partial

Very frequent (80-99%)HP:0001338

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Degeneration of the spinal cord

Very frequent (80-99%)HP:0006827

Diffuse axonal swelling

Very frequent (80-99%)HP:0003405

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Facial swelling

Very frequent (80-99%)HP:0000282

Fetal foot inversion

Very frequent (80-99%)HP:0001762

Fewer or absent grooves in brain

Very frequent (80-99%)HP:0001339

Hypoplasia of the brainstem

Very frequent (80-99%)HP:0002365

Neuronal loss in the cerebral cortex

Very frequent (80-99%)HP:0007190

Poorly developed lungs

Very frequent (80-99%)HP:0002089

Shortened long bones of hand

Very frequent (80-99%)HP:0010049

Small basal ganglia

Very frequent (80-99%)HP:0012697

Small cerebellum

Very frequent (80-99%)HP:0001321

Small cerebrum

Very frequent (80-99%)HP:0006872

Stippling of the epiphyses

Very frequent (80-99%)HP:0010655

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of metacarpal bone(parent)

Lissencephaly(parent)

Chondrodysplasia punctata(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Congenital dysplasia of limb(parent)

Quick Facts

SNOMED CT: 718720007
UMLS CUI: C4305254
Fully Specified Name: Lissencephaly type 3 metacarpal bone dysplasia 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.