Finucane Kurtz Scott syndrome

disorder

SNOMED 766870005CUI C4707857

Overview

Finucane Kurtz Scott 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 dermatoglyphics

Very frequent (80-99%)HP:0007477

Abnormality of the thumbs

Very frequent (80-99%)HP:0001172

Abnormality of the wrist

Very frequent (80-99%)HP:0003019

Attachment of thumb close to wrist

Very frequent (80-99%)HP:0009623

Behavioral changes

Very frequent (80-99%)HP:0000708

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Dull intelligence

Very frequent (80-99%)HP:0001249

Epilepsy

Very frequent (80-99%)HP:0001250

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Hypopigmented skin patches

Very frequent (80-99%)HP:0001053

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large mouth

Very frequent (80-99%)HP:0000154

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Unbalanced face

Very frequent (80-99%)HP:0000324

Delayed puberty

Frequent (30-79%)HP:0000823

Depressed philtrum

Frequent (30-79%)HP:0002002

Eye drop

Frequent (30-79%)HP:0000508

Increased length of philtrum

Frequent (30-79%)HP:0000343

Partial syndactyly

Frequent (30-79%)HP:0006101

Scoliosis

Frequent (30-79%)HP:0002650

Abnormal localization of kidney

Occasional (5-29%)HP:0100542

Related Conditions

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

Hearing loss associated with syndrome(parent)

Epiphyseal dysplasia(parent)

Congenital sensorineural hearing loss(parent)

Chronic deafness(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 766870005
UMLS CUI: C4707857
Fully Specified Name: Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.