Coffin-Siris syndrome

disorder

SNOMED 10007009CUI C0265338

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.

Mental and motor retardation

Always present (100%)HP:0001263

Speech delay

Always present (100%)HP:0000750

Coarse face

Very frequent (80-99%)HP:0000280

Delayed ability to walk

Very frequent (80-99%)HP:0031936

Feeding difficulties

Very frequent (80-99%)HP:0011968

Full lower lip

Very frequent (80-99%)HP:0000179

Hypertrichosis

Very frequent (80-99%)HP:0000998

Large mouth

Very frequent (80-99%)HP:0000154

Small nail

Very frequent (80-99%)HP:0001792

Thick eyebrow

Very frequent (80-99%)HP:0000574

Thick eyelashes

Very frequent (80-99%)HP:0011231

Aspiration pneumonia

Frequent (30-79%)HP:0011951

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Broad, upturned nose

Frequent (30-79%)HP:0000455

Cardiac anomaly

Frequent (30-79%)HP:0001627

Central hypotonia

Frequent (30-79%)HP:0001252

Cleft of palate

Frequent (30-79%)HP:0000175

Concave bridge of nose

Frequent (30-79%)HP:0005280

Cryptorchidism

Frequent (30-79%)HP:0000028

Curvature of digit

Frequent (30-79%)HP:0030084

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Decreased width of tooth

Frequent (30-79%)HP:0000691

Delayed eruption of teeth

Frequent (30-79%)HP:0000684

Delayed skeletal development

Frequent (30-79%)HP:0002750

Distortion of face

Frequent (30-79%)HP:0001999

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Epilepsy

Frequent (30-79%)HP:0001250

Eyelid ptosis

Frequent (30-79%)HP:0000508

Frontal protuberance

Frequent (30-79%)HP:0002007

Genitourinary disease

Frequent (30-79%)HP:0000119

Related Conditions

Multiple system malformation syndrome(parent)

Congenital anomaly of brain(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 10007009
UMLS CUI: C0265338
Fully Specified Name: Coffin-Siris 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.