Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait.
Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of eye movement||-|
|Abnormality of the anterior chamber||-|
|Autosomal recessive inheritance||-|
|Cleft upper lip||-|
|Clinodactyly of the 5th finger||-|
|Conductive hearing impairment||-|
|Highly arched eyebrow||-|
|Intellectual disability, mild||-|
|Postnatal growth retardation||-|
|Short 5th finger||-|
|Single interphalangeal crease of fifth finger||-|
|Spina bifida occulta||-|
|Underdeveloped supraorbital ridges||-|
|Wide anterior fontanel||-|
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