Trigonocephaly, short stature, developmental delay syndrome

disorder

SNOMED 733066002CUI C1839125

Overview

Trigonocephaly, short stature, developmental delay 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased body height

Very frequent (80-99%)HP:0004322

Trigonocephaly

Very frequent (80-99%)HP:0000243

Broad secondary alveolar ridge

Frequent (30-79%)HP:0000216

Curvature of outermost bone of little finger

Frequent (30-79%)HP:0005769

Epilepsy

Frequent (30-79%)HP:0001250

Growth delay as children

Frequent (30-79%)HP:0008897

High arched palate

Frequent (30-79%)HP:0000218

Hooked nose

Frequent (30-79%)HP:0000444

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Inguinal hernia

Frequent (30-79%)HP:0000023

Low birth weight

Frequent (30-79%)HP:0001518

Metopic suture patent to nasal root

Frequent (30-79%)HP:0005495

Moderate mental retardation

Frequent (30-79%)HP:0002342

Multisutural craniosynostosis

Frequent (30-79%)HP:0011324

Narrow forehead

Frequent (30-79%)HP:0000341

Ocular hypotelorism

Frequent (30-79%)HP:0000601

Palpebronasal fold

Frequent (30-79%)HP:0000286

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Premature posterior fontanelle closure

Frequent (30-79%)HP:0005494

Small anterior fontanelle

Frequent (30-79%)HP:0000237

VSD

Frequent (30-79%)HP:0001629

Broad alveolar processes of jaw

HP:0000187

Lambdoid suture craniosynostosis

HP:0004443

Low-set ears

HP:0000369

Permanent curving of the pinkie finger

HP:0004209

Poor school performance

HP:0001249

Sagittal suture synostosis

HP:0004442

Related Conditions

Trigonocephaly(parent)

Multiple system malformation syndrome(parent)

Small stature(parent)

Developmental delay(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 733066002
UMLS CUI: C1839125
Fully Specified Name: Trigonocephaly, short stature, developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.