It is clinically defined as a triad of symptoms that include blepharophimosis, craniosynostosis, and epicanthus inversus. Other features include highly arched eyebrows, and hypertelorism. Occasional presence of spinal bifida occulta, cranial asymmetry, occipital bone flattening, and cleft lip/palate. Patient may manifest psychological development delays.
Oculopalatoskeletal Syndrome; Clefting-Ocular Anterior Chamber Defect-Lid Anomalies Syndrome.
The exact incidence remains unknown.
It is believed inherited as an autosomal recessive.
Eyelid traits are usually blepharophimosis, blepharoptosis, and telecanthus inversus, plus a developmental defect of the anterior segment of the eye. Craniosynostosis with cranial asymmetry, skeletal defects, hearing deficit, cleft lip and palate, and mild mental retardation; hydronephrosis is described.
Creatinine and blood urea nitrogen should be obtained. The presence of raised intracranial pressure cannot be excluded in presence of craniosynostosis. It is reported that in presence of a one-suture fusion, the intracranial pressure is elevated in 18% of patients and when two or more are involved, 40% of patients have an increase in intracranial pressure.
There are no particular pharmacological issues with anesthesia.
Other conditions to be considered
Carnevale Syndrome: Characterized by hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large fleshy ears, and lozenge-shaped diastasis around the umbilicus. It is believed inherited as an autosomal recessive genetic trait.
OSA Syndrome (Oculo-Skeletal-Abdominal Syndrome; Mingarelli-Carnevale Syndrome): Resembles Carnevale Syndrome with humeroradial synostoses, and spinal anomalies as extra features. It is believed inherited as an autosomal recessive genetic trait.
☞Malpuech Syndrome (Malpuech Facial Clefting Syndrome; Gypsy Type Facial Clefting Syndrome): Characterized by intrauterine growth retardation, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. It is believed inherited as an autosomal recessive genetic trait.
“3MC Syndrome” (Malpuech-Michels-Mingarelli-Carnevale Syndrome): Defined by four disorders that were formerly considered separate medical entities. They consist of: Mingarelli, Malpuech, Michels, and Carnevale Syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.
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A: Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)? Am J Med Genet A 1;137A(3):332–335, 2015.