Syndactyly, telecanthus, anogenital and renal malformation syndrome

disorder

SNOMED 723581006CUI C2678045

Overview

Syndactyly, telecanthus, anogenital and renal malformation 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.

3-4 toe syndactyly

Always present (100%)HP:0009779

3-5 toe syndactyly

Always present (100%)HP:0010716

Bilateral clubfeet

Always present (100%)HP:0001776

Depressed nasal root/bridge

Always present (100%)HP:0005280

Increased nasal width

Always present (100%)HP:0000445

Ligamentous laxity

Always present (100%)HP:0001382

Limited eye motility from Duane anomaly

Always present (100%)HP:0009921

Single flexion crease

Always present (100%)HP:0000954

Spina bifida occulta

Always present (100%)HP:0003298

Webbed 4th-5th toes

Always present (100%)HP:0004692

Anal atresia

Very frequent (80-99%)HP:0002023

Decreased body height

Very frequent (80-99%)HP:0004322

Lop ear

Very frequent (80-99%)HP:0000394

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Craniosyostosis

Frequent (30-79%)HP:0001363

Ectopic kidney

Frequent (30-79%)HP:0000086

Heart septal defect

Frequent (30-79%)HP:0001671

Heart shaped uterus

Frequent (30-79%)HP:0000813

Horseshoe kidney

Frequent (30-79%)HP:0000085

Hydronephrosis

Frequent (30-79%)HP:0000126

Hypoplastic labia

Frequent (30-79%)HP:0000066

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Potato nose

Frequent (30-79%)HP:0000414

Prominent clitoris

Frequent (30-79%)HP:0008665

Renal aplasia

Frequent (30-79%)HP:0000104

Renal failure in adulthood

Frequent (30-79%)HP:0000083

Septate vagina

Frequent (30-79%)HP:0001153

VUR

Frequent (30-79%)HP:0000076

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Syndactyly of toes(parent)

Congenital anomaly of eyelid(parent)

Anal atresia(parent)

Genitourinary congenital anomalies(parent)

Hereditary disorder of the visual system(parent)

Digestive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

X-linked dominant hereditary disease(parent)

Quick Facts

SNOMED CT: 723581006
UMLS CUI: C2678045
Fully Specified Name: Syndactyly, telecanthus, anogenital and renal malformation 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.