Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability.

Toriello–Carey syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum. [1] [2] Children with the disorder also possess a characteristic facial phenotype. [3]

Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males.

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. At least 50 cases have been reported since the first description in 1988.

Laryngeal hypoplasia is the most common laryngeal anomaly described. Tracheal intubation for respiratory failure as a consequence of hypotonia may be necessary in the neonatal period. Cerebellar and brainstem hypoplasia are described in addition to corpus callosum agenesis. Seizures have been a feature in some patients.

Toriello–Carey syndrome, a rare genetic disorder, encompasses two distinct types. Type 1 is characterized by craniofacial anomalies, such as cleft lip and palate, hypertelorism, and micrognathia. In contrast, Type 2 presents with intellectual disability, developmental delay, and growth retardation.

Toriello and Carey described a provisionally-unique syndrome comprised of agenesis of the corpus callosum, Pierre Robin anomaly, and a characteristic facial phenotype. Because the condition affected siblings, this entity was postulated to be an autosomal recessive multiple anomaly syndrome.

Toriello syndrome, also known as Toriello-Carey syndrome, encompasses two distinct types. Type 1 is characterized by craniofacial anomalies like a high, broad forehead, hypertelorism, and low-set ears. Additionally, individuals may present …

2022年7月7日 · Toriello-Carey syndrome is a combination of various inherited anomalies that was discovered in 1988 when two American doctors Toriello and Carey described their findings in four children, of which three were siblings (Toriello and Carey 1988).