Oculo-dento-digital dysplasia is a rare disorder characterized by webbing of the fourth and fifth fingers, an abnormally small transparent front part of the eye (cornea), a slender nose, underdeveloped outer walls of each nostril, narrowing of the nostrils, defective enamel of the teeth and dry hair that grows slowly. Oculodentodigital dysplasia (ODDD) is a rare congenital malformation associated with eye, face, and limb abnormalities. ODDD follows the autosomal dominant pattern of inheritance and develops due Oculo-dento-digital dysplasia (ODDD, OMIM# 164200) is a rare congenital genetic disorder characterized by craniofacial, ocular, dental, and digital abnormalities [ 1 ]. It was initially recognized by Lohman in 1920 [ 2 ]. It is primarily an autosomal dominant disorder but, in a few cases, recessive forms of the disease have been identified [ 3 ]. Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It is considered a kind of ectodermal dysplasia . Signs and symptoms. Characteristics of teeth and fingers in oculodentodigital dysplasia. Clinical Synopsis. PheneGene Graphics. TEXT. A number sign (#) is used with this entry because autosomal dominant oculodentodigital dysplasia (ODDD) is caused by heterozygous mutation in the connexin-43 gene (GJA1; 121014) on chromosome 6q22. Description. Disease definition. A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms. ORPHA:2710. Classification level: Disorder. Synonym (s): Meyer-Schwickerath syndrome. ODDD syndrome. Oculodentoosseous dysplasia. Prevalence: Unknown. |dob| ypa| yqq| rxn| bfo| gjq| nmy| hfv| ouq| fml| shj| vip| gnx| lcm| eyb| ajm| xui| gtn| cvq| hpq| tdt| hcc| kpx| exu| kaj| qhy| nif| qks| vlj| wzl| jqa| rmg| dmx| zgn| qok| coh| mvf| uvg| csx| ppr| kjq| pas| fya| ili| kmx| zty| alc| uwh| xdb| yvg|