Freeman-Sheldon syndrome

disorder

SNOMED 52616002CUI C0265224

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Camptodactyly

Always present (100%)HP:0012385

Chordee

Always present (100%)HP:0000041

Concave bridge of nose

Always present (100%)HP:0005280

Decreased projection of lower jaw

Always present (100%)HP:0000347

Delayed motor milestones

Always present (100%)HP:0001270

Flat facial shape

Always present (100%)HP:0012368

Flexion deformity of finger

Always present (100%)HP:0012785

Inadequate arch length for tooth size

Always present (100%)HP:0000678

Low-set ears

Always present (100%)HP:0000369

Overlapping toes

Always present (100%)HP:0001845

Pursed lips

Always present (100%)HP:0000205

Rocker bottom feet

Always present (100%)HP:0001838

Short neck

Always present (100%)HP:0000470

Small nose

Always present (100%)HP:0003196

Dental anomalies

Very frequent (80-99%)HP:0000164

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Foot, talipes equinovarus

Very frequent (80-99%)HP:0001762

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Indentation of chin

Very frequent (80-99%)HP:0010751

Narrow mouth

Very frequent (80-99%)HP:0000160

Neck joint contracture

Very frequent (80-99%)HP:0005997

Poor weight gain

Very frequent (80-99%)HP:0001508

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Retruded nasal dorsum

Very frequent (80-99%)HP:0000457

Scoliosis

Very frequent (80-99%)HP:0002650

Small nasal alae

Very frequent (80-99%)HP:0000430

Stiff joint

Very frequent (80-99%)HP:0001387

Ulnar Drift

Very frequent (80-99%)HP:0009465

Related Conditions

Congenital anomaly of face bones(parent)

Distal arthrogryposis syndrome(parent)

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

Inherited arthrogryposis(parent)

Autosomal hereditary disorder(parent)

Quick Facts

SNOMED CT: 52616002
UMLS CUI: C0265224
Fully Specified Name: Freeman-Sheldon 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.