Jackson-Weiss syndrome

disorder

SNOMED 709105005CUI C0795998

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.

Broad bone of big toe

Very frequent (80-99%)HP:0010059

Broad first metatarsal

Very frequent (80-99%)HP:0010068

Flat midface

Very frequent (80-99%)HP:0011800

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Short long bone of foot

Very frequent (80-99%)HP:0010743

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Tall shaped head

Very frequent (80-99%)HP:0000262

Widened metatarsal shaft

Very frequent (80-99%)HP:0001783

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Broad distal phalanx of the hallux

Frequent (30-79%)HP:0010077

Broad proximal phalanx of the big toe

Frequent (30-79%)HP:0010086

Eye drop

Frequent (30-79%)HP:0000508

First metatarsal hypoplasia

Frequent (30-79%)HP:0010105

Frontal protuberance

Frequent (30-79%)HP:0002007

Hooked nose

Frequent (30-79%)HP:0000444

Increased size of mandible

Frequent (30-79%)HP:0000303

Prominent eyes

Frequent (30-79%)HP:0000520

Retrognathia of upper jaw

Frequent (30-79%)HP:0000327

Squint

Frequent (30-79%)HP:0000486

Underdeveloped brows

Frequent (30-79%)HP:0009891

Abnormal fibula morphology

Occasional (5-29%)HP:0002991

Calcaneonavicular fusion

Occasional (5-29%)HP:0008122

Craniosynostosis of coronal suture

Occasional (5-29%)HP:0004440

Foot ectrodactyly

Occasional (5-29%)HP:0001839

Medially deviated halluces

Occasional (5-29%)HP:0008080

partial or complete syndactyly 2nd-3rd toes

Occasional (5-29%)HP:0004691

Preaxial polydactyly of foot

Occasional (5-29%)HP:0001841

Protruding forehead

Occasional (5-29%)HP:0011220

Broad big toe

HP:0010055

Deformity of the skull

HP:0001363

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital anomaly of toe(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Acrocephalosyndactyly(parent)

Quick Facts

SNOMED CT: 709105005
UMLS CUI: C0795998
Fully Specified Name: Jackson-Weiss 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.