Schilbach Rott syndrome

disorder

SNOMED 721902002CUI C1834038

Overview

Schilbach Rott 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.

Decreased body height

Occasional (5-29%)HP:0004322

Mental retardation, mild

Occasional (5-29%)HP:0001256

3-4 finger cutaneous syndactyly

HP:0011939

Blepharophimosis

HP:0000581

Childhood attention deficit/hyperactivity disorder

HP:0007018

Curvature of digit

HP:0030084

Cutaneous 2,3 toe syndactyly

HP:0005709

Decreased projection of mandible

HP:0000347

Decreased size of cranium

HP:0000252

Hyperplasia of nose

HP:0000448

Hypospadias

HP:0000047

Increased nasal height

HP:0003189

Microtia

HP:0008551

Mongoloid slant

HP:0000582

Narrow mouth

HP:0000160

Ocular hypotelorism

HP:0000601

Palpebronasal fold

HP:0000286

Posteriorly angulated ears

HP:0000358

Submucous cleft hard palate

HP:0000176

Uvula bifida

HP:0000193

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Syndactyly(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721902002
UMLS CUI: C1834038
Fully Specified Name: Schilbach Rott syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.