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Lenz microphthalmia syndrome

disorder
SNOMED 438504004CUI C0796016

Overview

Lenz microphthalmia 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.

Absence of eyeballs
Always present (100%)HP:0000528
Clinodactyly
Always present (100%)HP:0030084
Generalised decreased muscle tone
Always present (100%)HP:0001290
High arched palate
Always present (100%)HP:0000218
No development of motor milestones
Always present (100%)HP:0001270
Pectus excavatum
Always present (100%)HP:0000767
Prominent finger pads
Always present (100%)HP:0001212
Syndactyly
Always present (100%)HP:0001159
Decreased size of eyeball
Very frequent (80-99%)HP:0000568
Complete duplication of thumb bones
Frequent (30-79%)HP:0009943
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dental anomalies
Frequent (30-79%)HP:0000164
Dull intelligence
Frequent (30-79%)HP:0001249
Glaucoma
Frequent (30-79%)HP:0000501
Hydronephrosis
Frequent (30-79%)HP:0000126
Hypospadias
Frequent (30-79%)HP:0000047
Iris coloboma
Frequent (30-79%)HP:0000612
Misshapened teeth
Frequent (30-79%)HP:0006482
Oral cleft
Frequent (30-79%)HP:0000202
Partial syndactyly
Frequent (30-79%)HP:0006101
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Renal hypoplasia/aplasia
Frequent (30-79%)HP:0008678
Ureteral dilatation
Frequent (30-79%)HP:0000072
Abnormal clavicles
Occasional (5-29%)HP:0000889
Abnormal vocalization
Occasional (5-29%)HP:0002167
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680

Related Conditions

Hereditary disorder of the visual system(parent)
Microphthalmos(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT
438504004
UMLS CUI
C0796016
Fully Specified Name
Lenz microphthalmia 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.