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Cerebro-costo-mandibular syndrome

disorder
SNOMED 51780007CUI C0265342

Overview

Cerebro-costo-mandibular 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.

Bell-shaped chest
Very frequent (80-99%)HP:0001591
Cleft of palate
Very frequent (80-99%)HP:0000175
Pierre-Robin sequence
Very frequent (80-99%)HP:0000201
Posterior rib gap
Very frequent (80-99%)HP:0030282
Respiratory distress, neonatal
Very frequent (80-99%)HP:0002643
Atretic auditory canal
Frequent (30-79%)HP:0000413
Decreased body height
Frequent (30-79%)HP:0004322
Feeding difficulties
Frequent (30-79%)HP:0011968
Floppy windpipe
Frequent (30-79%)HP:0002779
Hearing loss, conductive
Frequent (30-79%)HP:0000405
High arched palate
Frequent (30-79%)HP:0000218
Hunched back
Frequent (30-79%)HP:0002808
Mental-retardation
Frequent (30-79%)HP:0001249
Scoliosis
Frequent (30-79%)HP:0002650
Small for gestational age infant
Frequent (30-79%)HP:0001511
10 pairs of ribs
Occasional (5-29%)HP:0030300
11 pairs of ribs
Occasional (5-29%)HP:0000878
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Anteriorly displaced anus
Occasional (5-29%)HP:0001545
Atria septal defect
Occasional (5-29%)HP:0001631
Cleft lip
Occasional (5-29%)HP:0410030
Dental cavities
Occasional (5-29%)HP:0000670
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Hydrancephaly
Occasional (5-29%)HP:0002324
Meningocele
Occasional (5-29%)HP:0002435
Multicystic kidney dysplasia
Occasional (5-29%)HP:0000003
Myelomeningocele
Occasional (5-29%)HP:0002475
Narrowing of anal opening
Occasional (5-29%)HP:0002025
Pterygium colli
Occasional (5-29%)HP:0000465
Split spine
Occasional (5-29%)HP:0002414

Quick Facts

SNOMED CT
51780007
UMLS CUI
C0265342
Fully Specified Name
Cerebro-costo-mandibular 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.