Shprintzen Goldberg omphalocele syndrome

disorder

SNOMED 716230005CUI C1866958

Overview

Shprintzen Goldberg omphalocele 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 eyelashes

Very frequent (80-99%)HP:0000499

Anteroposteriorly shortened larynx

Very frequent (80-99%)HP:0005956

Decreased volume of pharynx

Very frequent (80-99%)HP:0009555

High pitched voice

Very frequent (80-99%)HP:0001620

Hypoplastic larynx

Very frequent (80-99%)HP:0008749

Laterally sparse eyebrows

Very frequent (80-99%)HP:0005338

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Scoliosis

Very frequent (80-99%)HP:0002650

Columella, short

Frequent (30-79%)HP:0002000

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Omphalocoele

Frequent (30-79%)HP:0001539

Respiratory distress, neonatal

Frequent (30-79%)HP:0002643

Anal atresia

Occasional (5-29%)HP:0002023

Chronic diarrhoea

Occasional (5-29%)HP:0002028

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Low chest circumference

Occasional (5-29%)HP:0000774

Pterygium colli

Occasional (5-29%)HP:0000465

2 vessel cord

HP:0001195

Abnormal mouth

HP:0000153

Broad flat nasal bridge

HP:0000431

Decreased body height

HP:0004322

Decreased volume of lip vermillion

HP:0000233

Deformity of face

HP:0001999

Flared nasal alae

HP:0000454

Generalised decreased muscle tone

HP:0001290

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital omphalocele(parent)

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

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716230005
UMLS CUI: C1866958
Fully Specified Name: Shprintzen Goldberg omphalocele 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.