Shaheen syndrome

disorder

SNOMED 773553003CUI C3809160

Overview

Shaheen 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.

Broad, upturned nose

Frequent (30-79%)HP:0000455

Delayed milestone development

Frequent (30-79%)HP:0012434

Dental cavities

Frequent (30-79%)HP:0000670

Enamel dysplasia

Frequent (30-79%)HP:0006297

Hypohidrosis

Frequent (30-79%)HP:0000966

Intermittent fever

Frequent (30-79%)HP:0001954

Laterally sparse eyebrows

Frequent (30-79%)HP:0005338

Low intelligence

Frequent (30-79%)HP:0001249

Prominent lips

Frequent (30-79%)HP:0012471

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Decreased size of cranium

Occasional (5-29%)HP:0000252

Hepatitis

Occasional (5-29%)HP:0012115

Mild microcephaly

Occasional (5-29%)HP:0040196

Postnatal microcephaly

Occasional (5-29%)HP:0005484

Palmoplantar keratosis

HP:0000972

Speech difficulties

HP:0000750

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hypohidrosis(parent)

Hereditary diffuse palmoplantar keratoderma(parent)

Enamel hypoplasia(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773553003
UMLS CUI: C3809160
Fully Specified Name: Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.