Epiphyseal dysplasia, microcephalus, nystagmus syndrome

disorder

SNOMED 721975004CUI C0796021

Overview

Epiphyseal dysplasia, microcephalus, nystagmus 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.

Birth weight less than 10th percentile

Always present (100%)HP:0001518

Mental retardation, mild

Always present (100%)HP:0001256

Multiple epiphyseal dysplasia

Always present (100%)HP:0002654

Nasal hypertrophy

Always present (100%)HP:0000448

Permanent curving of the pinkie finger

Always present (100%)HP:0004209

Prominent lips

Always present (100%)HP:0012471

Sloping forehead

Always present (100%)HP:0000340

Small for gestational age infant

Always present (100%)HP:0001511

Square iliac bones

Always present (100%)HP:0003177

Abnormal development of the ends of long bones in arms and legs

Very frequent (80-99%)HP:0002656

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Irregular end part of long bone

Very frequent (80-99%)HP:0010582

Abnormality of RPE

Frequent (30-79%)HP:0007703

Arthralgias

Frequent (30-79%)HP:0002829

Coxa vara

Frequent (30-79%)HP:0002812

Difficulties with night vision

Frequent (30-79%)HP:0000662

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Kalnienk vision

Frequent (30-79%)HP:0007994

Limited forearm extension

Frequent (30-79%)HP:0001377

Low intelligence

Frequent (30-79%)HP:0001249

Multiple joint dislocation

Frequent (30-79%)HP:0012095

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Restrictive respiratory disease

Frequent (30-79%)HP:0002091

Retinal pigmentary degeneration

Frequent (30-79%)HP:0000580

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormality of nail color

Occasional (5-29%)HP:0100643

Related Conditions

Multiple epiphyseal dysplasia(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 721975004
UMLS CUI: C0796021
Fully Specified Name: Epiphyseal dysplasia, microcephalus, nystagmus 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.