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Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Features include very common findings: Short nose, Short palpebral fissure, Abnormal pinna morphology, and Intellectual disability and others; and common findings: Abnormal cardiac septum morphology, Wide anterior fontanel, Low muscle tone (hypotonia), and Agenesis of corpus callosum and others. 66 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Intellectual disability, Depressed nasal bridge, Seizure |
Biomarker and diagnostic research for Toriello-Carey syndrome has been reported in the published literature.
Phenotype severity distribution: 7 very common features, 13 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Toriello-Carey syndrome.
96 publications have been identified in PubMed for Toriello-Carey syndrome. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 60 | 63% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:16 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Toriello-Carey syndrome
Head and neck | 4 | Microcephaly, Cleft palate, Abnormal palate morphology |
Muscles | 3 | Low muscle tone (hypotonia), Generalized hypotonia, Brain shrinkage (cerebral atrophy) |
Growth and development | 3 | Short stature, Intrauterine growth retardation, Postnatal growth retardation |
Heart and blood vessels | 2 | Abnormal cardiac septum morphology, Heart muscle disease (cardiomyopathy) |
Lungs and breathing | 2 | Respiratory distress, Neonatal respiratory distress |
Skin | 1 | Redundant neck skin |
Eyes | 1 | Ptosis |
Pregnancy and birth | 1 | Neonatal respiratory distress |
Ears | 1 | Hearing loss (hearing impairment) |
Digestive system | 1 | Feeding difficulties in infancy |
Age of onset: newborn period, at birth.
16 |
17% |
Laboratory research | 11 | 11% |
Testing and diagnosis research | 6 | 6% |
Disease patterns and progression | 3 | 3% |
Zhao Y (2026). [PMID: 41705901](https://pubmed.ncbi.nlm.nih.gov/41705901/). *Prenat Diagn*. [Review / Meta-Analysis]
K C R (2026). [PMID: 41633496](https://pubmed.ncbi.nlm.nih.gov/41633496/). *Biol Psychiatry*. [Basic Science / Preclinical]
Schumaier NP (2026). [PMID: 39531587](https://pubmed.ncbi.nlm.nih.gov/39531587/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Hansman L (2026). [PMID: 41997214](https://pubmed.ncbi.nlm.nih.gov/41997214/). *Eur J Med Genet*. [Case Report / Case Series]
Resnick O (2026). [PMID: 41684880](https://pubmed.ncbi.nlm.nih.gov/41684880/). *JCEM Case Rep*. [Case Report / Case Series]
Galaz-Montoya CI (2026). [PMID: 41858232](https://pubmed.ncbi.nlm.nih.gov/41858232/). *Clin Genet*. [Case Report / Case Series]
Torrey K (2026). [PMID: 42247610](https://pubmed.ncbi.nlm.nih.gov/42247610/). *J Neuromuscul Dis*. [Case Report / Case Series]
Yang W (2026). [PMID: 41647755](https://pubmed.ncbi.nlm.nih.gov/41647755/). *Front Hum Neurosci*. [Case Report / Case Series]
von Quednow E (2026). [PMID: 41813602](https://pubmed.ncbi.nlm.nih.gov/41813602/). *Am J Med Genet A*. [Case Report / Case Series]
Manav Yigit Z (2026). [PMID: 41545183](https://pubmed.ncbi.nlm.nih.gov/41545183/). *J Med Genet*. [Case Report / Case Series]