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8q13 microdeletion syndrome

disorder
SNOMED 724147004CUI C1838162

Overview

8q13 microdeletion 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.

Agenesis of uvula
Always present (100%)HP:0010292
Carpometacarpal synostosis
Always present (100%)HP:0100328
Nasal speech
Always present (100%)HP:0001611
Phalangeal hypoplasia
Always present (100%)HP:0009803
Slender feet
Always present (100%)HP:0001786
Tarsometatarsal synostosis
Always present (100%)HP:0100329
Tibial bowing
Always present (100%)HP:0002982
Ulnar deviation of the hands
Always present (100%)HP:0009487
Abnormal hands
Very frequent (80-99%)HP:0001155
Abnormal humerus morphology
Very frequent (80-99%)HP:0031095
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormal tibia morphology
Very frequent (80-99%)HP:0002992
Abnormality of the feet
Very frequent (80-99%)HP:0001760
Abnormality of the wrist
Very frequent (80-99%)HP:0003019
Aplasia/hypoplasia of palatine uvula
Very frequent (80-99%)HP:0010293
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Distal femoral bowing
Very frequent (80-99%)HP:0005096
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Eye drop
Very frequent (80-99%)HP:0000508
Fusion of joints
Very frequent (80-99%)HP:0100240
Fusion of metatarsals
Very frequent (80-99%)HP:0001440
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Mesomelia
Very frequent (80-99%)HP:0003027
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Permanent curving of the pinkie finger
Very frequent (80-99%)HP:0004209
Short long bone of foot
Very frequent (80-99%)HP:0010743
Skeletal dysplasia
Very frequent (80-99%)HP:0002652

Related Conditions

Autosomal dominant hereditary disorder(parent)
8q partial monosomy syndrome(parent)
Acromesomelic dysplasia syndrome(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
724147004
UMLS CUI
C1838162
Fully Specified Name
8q13 microdeletion 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.