Shprintzen Goldberg craniosynostosis syndrome

disorder

SNOMED 719069008CUI C1321551

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.

Arachnodactyly

Very frequent (80-99%)HP:0001166

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Dropped arches

Very frequent (80-99%)HP:0001763

High arched palate

Very frequent (80-99%)HP:0000218

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Low-set ears

Very frequent (80-99%)HP:0000369

Mental-retardation

Very frequent (80-99%)HP:0001249

Narrow, high-arched roof of mouth

Very frequent (80-99%)HP:0002705

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent eyes

Very frequent (80-99%)HP:0000520

Retrognathia

Very frequent (80-99%)HP:0000278

Turridolichocephaly

Very frequent (80-99%)HP:0000268

Abnormal aortic valve morphology

Frequent (30-79%)HP:0001646

Camptodactyly

Frequent (30-79%)HP:0012385

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Communicating hydrocephalus

Frequent (30-79%)HP:0001334

Deformity of the skull

Frequent (30-79%)HP:0001363

Eyelid ptosis

Frequent (30-79%)HP:0000508

Fetal foot inversion

Frequent (30-79%)HP:0001762

Frontal protuberance

Frequent (30-79%)HP:0002007

High forehead

Frequent (30-79%)HP:0000348

Inguinal hernia

Frequent (30-79%)HP:0000023

Ligamentous laxity

Frequent (30-79%)HP:0001382

Mitral regurgitation, mild

Frequent (30-79%)HP:0001653

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Pectus carinatum

Frequent (30-79%)HP:0000768

Related Conditions

Autosomal dominant hereditary disorder(parent)

Craniosynostosis syndrome(parent)

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

Connective tissue hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Musculoskeletal and connective tissue disorder(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719069008
UMLS CUI: C1321551
Fully Specified Name: Shprintzen Goldberg craniosynostosis 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.