Overview
Abruzzo Erickson 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.
Cleft of palate
Very frequent (80-99%)HP:0000175
Flat facial shape
Very frequent (80-99%)HP:0012368
Hypospadias
Very frequent (80-99%)HP:0000047
Macrotia
Very frequent (80-99%)HP:0000400
Subcoronal hypospadias
Very frequent (80-99%)HP:0008743
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Abnormal palate morphology
Frequent (30-79%)HP:0000174
Chorioretinal coloboma
Frequent (30-79%)HP:0000567
Decreased body height
Frequent (30-79%)HP:0004322
Fused forearm bones
Frequent (30-79%)HP:0002974
Iris coloboma
Frequent (30-79%)HP:0000612
Notched pupil
Frequent (30-79%)HP:0000589
Sensorineural deafness
Frequent (30-79%)HP:0000407
Ulnar Drift
Frequent (30-79%)HP:0009465
Abnormal localization of kidney
Occasional (5-29%)HP:0100542
Atria septal defect
Occasional (5-29%)HP:0001631
Brachydactyly
Occasional (5-29%)HP:0001156
Cornea of eye less than 10mm in diameter
Occasional (5-29%)HP:0000482
Cryptorchidism
Occasional (5-29%)HP:0000028
Hearing loss, conductive
Occasional (5-29%)HP:0000405
Indentation of chin
Occasional (5-29%)HP:0010751
Palpebronasal fold
Occasional (5-29%)HP:0000286
Short toes
Occasional (5-29%)HP:0001831
Syndactyly of feet
Occasional (5-29%)HP:0001770
Hypoacusis
HP:0000365
Prominent ear
HP:0000411
Related Conditions
Multiple system malformation syndrome(parent)
Cleft palate(parent)
Congenital ocular coloboma(parent)
Hearing loss associated with syndrome(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Congenital mixed conductive and sensorineural hearing loss(parent)
X-linked sensorineural hearing loss(parent)
Quick Facts
- SNOMED CT
- 718574003
- UMLS CUI
- C1844862
- Fully Specified Name
- Cleft palate with coloboma of eye and deafness syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.