Toriello-Carey syndrome
Findings
No curated finding names Toriello-Carey syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0009021), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal corpus callosum morphologyHPOHP:0001273
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short palpebral fissureHPOHP:0012745
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Frequent (30% to 79% of cases)
- Aganglionic megacolonHPOHP:0002251
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Anteriorly placed anusHPOHP:0001545
- Frequent (30% to 79% of cases)
Show the remaining 34
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DDX3XHGNC:2745
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Toriello-Carey syndrome
- Also called
- corpus callosum agenesis-blepharophimosis-Robin sequence syndrome