loading...| Preferred Name |
Zechi-Ceide syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_217017 |
| alternative_term |
Occipital atretic cephalocele-unusual facies-large feet syndrome |
| definition |
Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
UMLS:C2752047 OMIM:612916 ICD-10:Q87.8 |
| label |
Zechi-Ceide syndrome |
| notation |
ORPHA:217017 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_217017 |
| prefLabel |
Zechi-Ceide syndrome |
| present_in |
Worldwide AND has_cases/families_value : 3.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |