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.

Abnormality of the nervous system

Very frequent (80-99%)HP:0000707

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased body height

Very frequent (80-99%)HP:0004322

Distortion of face

Very frequent (80-99%)HP:0001999

Retinal degeneration

Very frequent (80-99%)HP:0000546

Difficulties with night vision

Frequent (30-79%)HP:0000662

Feeding difficulties

Frequent (30-79%)HP:0011968

Low intelligence

Frequent (30-79%)HP:0001249

Mental and motor retardation

Frequent (30-79%)HP:0001263

Retinitis pigmentosa

Frequent (30-79%)HP:0000510

Speech difficulties

Frequent (30-79%)HP:0000750

Abnormal ERG

Occasional (5-29%)HP:0000512

Abnormal vena cava morphology

Occasional (5-29%)HP:0005345

Abnormality of pattern visual evoked potentials

Occasional (5-29%)HP:0030455

Abnormality of the endocrine system

Occasional (5-29%)HP:0000818

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Bunion

Occasional (5-29%)HP:0001822

Cardiac murmur

Occasional (5-29%)HP:0030148

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Congenital hypotonia

Occasional (5-29%)HP:0001319

Craniosyostosis

Occasional (5-29%)HP:0001363

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Delayed gross motor development

Occasional (5-29%)HP:0002194

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Failure of development of eyelashes

Occasional (5-29%)HP:0000561

Fallen arches

Occasional (5-29%)HP:0001763

Flat light-brown mark on skin

Occasional (5-29%)HP:0000957

Frontal protuberance

Occasional (5-29%)HP:0002007

Fused kidneys

Occasional (5-29%)HP:0000085

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.