Brachydactyly, short stature, retinitis pigmentosa syndrome

disorder

SNOMED 782914000CUI C5190709

Overview

Brachydactyly, short stature, retinitis pigmentosa 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.

Brachydactyly

Very frequent (80-99%)HP:0001156

Brain and/or spinal cord issue

Very frequent (80-99%)HP:0000707

Decreased body height

Very frequent (80-99%)HP:0004322

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Retinal degeneration

Very frequent (80-99%)HP:0000546

Cognitive delay

Frequent (30-79%)HP:0001263

Dull intelligence

Frequent (30-79%)HP:0001249

Feeding difficulties

Frequent (30-79%)HP:0011968

Night blindness

Frequent (30-79%)HP:0000662

Retinitis pigmentosa

Frequent (30-79%)HP:0000510

Speech delay

Frequent (30-79%)HP:0000750

Abnormal ERG

Occasional (5-29%)HP:0000512

Abnormality of pattern visual evoked potentials

Occasional (5-29%)HP:0030455

Abnormality of the vena cava

Occasional (5-29%)HP:0005345

Aplasia of eyelashes

Occasional (5-29%)HP:0000561

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Broad columella

Occasional (5-29%)HP:0010761

Bunion

Occasional (5-29%)HP:0001822

Cafe-au-lait spots

Occasional (5-29%)HP:0000957

Cardiac murmur

Occasional (5-29%)HP:0030148

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Craniosyostosis

Occasional (5-29%)HP:0001363

Cryptorchidism

Occasional (5-29%)HP:0000028

Delayed gross motor development

Occasional (5-29%)HP:0002194

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Endocrine system disease

Occasional (5-29%)HP:0000818

Fallen arches

Occasional (5-29%)HP:0001763

Frontal protuberance

Occasional (5-29%)HP:0002007

Fused kidneys

Occasional (5-29%)HP:0000085

Hair loss

Occasional (5-29%)HP:0001596

Related Conditions

Hereditary disorder of the visual system(parent)

Degeneration of retina(parent)

Recessive hereditary disorder (autosomal)(parent)

Brachydactyly(parent)

Small stature(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 782914000
UMLS CUI: C5190709
Fully Specified Name: Brachydactyly, short stature, retinitis pigmentosa 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.