CODAS syndrome
Overview
Multiple abnormalities involving the eyes, nose, ears, and teeth in association with epiphyseal ossification disorders, vertebral defects, neurosensory hearing loss, short stature, and mental deficiency; All thus far reported cases have been sporadic-----[
Symptoms
* Child * Particular physiognomy/Odd looking kids * * Anteverted Nares deformity * Craniofacial Abnormalities/Congenital * Median nasal groove * Short upper lip * * Poor weight gain/child * * Conical teeth * Delayed dentition/teething * Gingival irregularity congenital * Teeth malformed/dysplastic * * Hypotonia * * Mental/motor retardation in children/signs * * Psychomotor retardation * * Snoring * * Short stature/child
Diagnosis
Xray/Delayed bone age/slow epiphysis closures Differential diagnosis includes chondrodysplasia punctata (rhizomelic, Conradi-Hunermann, and X-linked dominant types) and Kabuki syndrome (see these terms). Management requires a multi-disciplinary approach by specialists in neurology, ophthalmology, otorhinolaryngology, odontology, orthopedics and genetics. *Author: Orphanet (November 2008)