Zechi-Ceide syndrome

Orpha code: 217017OMIM code: 612916

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Occipital atretic cephalocele-unusual facies-large feet syndrome
Potyliczna przepuklina mózgowa - niezwykła twarz - duże stopy
Kod ORPHA
217017
Kod OMIM
612916
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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