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Short rib-polydactyly syndrome, Majewski type

disorder
SNOMED 72922008CUI C0024507

Overview

Short rib-polydactyly syndrome, Majewski type 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.

Atria septal defect
Occasional (5-29%)HP:0001631
Cerebellar vermis hypoplasia
Occasional (5-29%)HP:0001320
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Decreased size of tongue
Occasional (5-29%)HP:0000171
Dilatation of lateral cerebral ventricles
Occasional (5-29%)HP:0006956
Intestinal malrotation
Occasional (5-29%)HP:0002566
Liver fibrosis
Occasional (5-29%)HP:0001395
Pancreatic fibrosis
Occasional (5-29%)HP:0100732
Short and broad skull
Occasional (5-29%)HP:0000248
Short penis
Occasional (5-29%)HP:0000054
VSD
Occasional (5-29%)HP:0001629
Breakdown of light-sensitive cells in back of eye
Very rare (1-4%)HP:0000556
Delayed motor milestones
Very rare (1-4%)HP:0001270
Flattened vertebral bodies
Very rare (1-4%)HP:0000926
Pectus carinatum
Very rare (1-4%)HP:0000768
Speech and language difficulties
Very rare (1-4%)HP:0000750
Tricuspid regurgitation
Very rare (1-4%)HP:0005180
Ambiguous external genitalia
HP:0000062
Brachydactyly
HP:0001156
Cleft of palate
HP:0000175
Hamartoma of tongue
HP:0011802
Hook-shaped clavicle
HP:0000895
Horizontal ribs
HP:0000888
Hydrops fetalis
HP:0001789
Hyperopia
HP:0000540
Hypoplasia of the epiglottis
HP:0005349
Laryngeal abnormalities
HP:0001600
Low chest circumference
HP:0000774
Marked shortening of tibia
HP:0005766
Mesomelia
HP:0003027

Related Conditions

Short rib polydactyly syndrome(parent)

Quick Facts

SNOMED CT
72922008
UMLS CUI
C0024507
Fully Specified Name
Short rib-polydactyly syndrome, Majewski type (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.