Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome

disorder

SNOMED 773404000CUI C1846059

Overview

Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency 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.

Narrow nose

Always present (100%)HP:0000460

Nostrils anteverted

Always present (100%)HP:0000463

Short digit

Always present (100%)HP:0011927

Shortened long bones of hand

Always present (100%)HP:0010049

Central hypotonia

Very frequent (80-99%)HP:0001252

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Single flexion crease

Very frequent (80-99%)HP:0000954

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

Frequent (30-79%)HP:0002656

Atrophy of the hippocampus

Frequent (30-79%)HP:0410170

Biconvex vertebral bodies

Frequent (30-79%)HP:0004625

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Breakdown of light-sensitive cells in back of eye

Frequent (30-79%)HP:0000556

Decreased body height

Frequent (30-79%)HP:0004322

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed ossification proximal femoral epiphyses

Frequent (30-79%)HP:0008828

Dermatitis

Frequent (30-79%)HP:0000964

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Flexion contractures of hips

Frequent (30-79%)HP:0003273

Growth delay as children

Frequent (30-79%)HP:0008897

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Irregular capital femoral epiphysis

Frequent (30-79%)HP:0005041

Isolated hypogonadotropic hypogonadism

Frequent (30-79%)HP:0000044

Moderate mental retardation

Frequent (30-79%)HP:0002342

Nail overcurvature

Frequent (30-79%)HP:0001795

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Related Conditions

Hereditary disorder of immune system(parent)

Immuno-osseous dysplasia(parent)

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

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773404000
UMLS CUI: C1846059
Fully Specified Name: Roifman 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.