Overview
Simosa Penchaszadeh Bustos 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.
Abnormal hair morphology
Always present (100%)HP:0001595
Broad flat nasal bridge
Always present (100%)HP:0000431
Dermatopathy
Always present (100%)HP:0000951
Dysplastic ears
Always present (100%)HP:0000377
Hypotrophic malar bone
Always present (100%)HP:0000272
Increased intercanthal distance
Always present (100%)HP:0000506
Increased width of the forehead
Always present (100%)HP:0000337
Low-set ears
Always present (100%)HP:0000369
Nasal speech
Always present (100%)HP:0001611
Nasal tip, depressed
Always present (100%)HP:0000437
Abnormal antihelix morphology
Very frequent (80-99%)HP:0009738
Abnormal antitragus morphology
Very frequent (80-99%)HP:0009896
Abnormality of the tragus
Very frequent (80-99%)HP:0009912
Absent/underdeveloped ear lobes
Very frequent (80-99%)HP:0009906
Blepharophimosis
Very frequent (80-99%)HP:0000581
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Flat facial shape
Very frequent (80-99%)HP:0012368
Flattening of the zygomatic bone
Very frequent (80-99%)HP:0010669
High forehead
Very frequent (80-99%)HP:0000348
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased nasal height
Very frequent (80-99%)HP:0003189
Indentation of chin
Very frequent (80-99%)HP:0010751
Large pinnae
Very frequent (80-99%)HP:0000400
Narrow mouth
Very frequent (80-99%)HP:0000160
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Small nasal alae
Very frequent (80-99%)HP:0000430
Thick, flared eyebrows
Very frequent (80-99%)HP:0002553
Vertical enlargement of face
Very frequent (80-99%)HP:0000276
Cryptorchidism
Frequent (30-79%)HP:0000028
Related Conditions
Autosomal dominant hereditary disorder(parent)
Digestive system hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Microstomia(parent)
Congenital malformation of ear(parent)
Auditory system hereditary disorder(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 773750003
- UMLS CUI
- C1866962
- Fully Specified Name
- Flat face, microstomia, ear anomaly 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.