Zechi-Ceide syndrome

Orpha code: 217017OMIM code: 612916

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

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