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Nasopalpebral lipoma coloboma syndrome

disorder
SNOMED 723411003CUI C1868660

Overview

Nasopalpebral lipoma coloboma 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 the lacrimal punctum
Always present (100%)HP:0001092
Depressed nasal root/bridge
Always present (100%)HP:0005280
Ectopic lacrimal punctum
Always present (100%)HP:0010748
Hamartoma
Always present (100%)HP:0010566
Increased width of bridge of nose
Always present (100%)HP:0000431
Notched lower eyelid
Always present (100%)HP:0000652
Upper eyelid coloboma
Always present (100%)HP:0000636
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Multiple lipomas
Very frequent (80-99%)HP:0001012
Notched pupil
Very frequent (80-99%)HP:0000589
Abnormality of the eyelashes
Frequent (30-79%)HP:0000499
Atretic lacrimal punctum
Frequent (30-79%)HP:0007820
Conjunctival hyperemia
Frequent (30-79%)HP:0030953
Fatty tumors on the eyelids
Frequent (30-79%)HP:0040164
Hairline point
Frequent (30-79%)HP:0000349
Hamartoma of the orbital region
Frequent (30-79%)HP:0030670
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased lacrimation
Frequent (30-79%)HP:0009926
Increased nasal width
Frequent (30-79%)HP:0000445
Increased width of the forehead
Frequent (30-79%)HP:0000337
Lens opacities
Frequent (30-79%)HP:0000518
Low-set ears
Frequent (30-79%)HP:0000369
Marked growth retardation
Frequent (30-79%)HP:0008850
Nanophthalmos
Frequent (30-79%)HP:0000568
Nasal tip, depressed
Frequent (30-79%)HP:0000437
Outward facing eye ball
Frequent (30-79%)HP:0000577
Recurrent URI
Frequent (30-79%)HP:0002788
Scarring or clouding of the cornea of the eye
Frequent (30-79%)HP:0007957
Skin hamartoma
Frequent (30-79%)HP:0031111
Small upper jaw
Frequent (30-79%)HP:0000327

Related Conditions

Autosomal dominant hereditary disorder(parent)
Multiple system malformation syndrome(parent)
Benign neoplasm of face(parent)
Coloboma of eyelid(parent)
Hereditary disorder of the visual system(parent)
Lipoma of head(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
723411003
UMLS CUI
C1868660
Fully Specified Name
Nasopalpebral lipoma coloboma 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.