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Zechi-Ceide syndrome

Disease definition

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.

ORPHA:217017

Classification level: Disorder

Synonym(s):
- Occipital atretic cephalocele-unusual facies-large feet syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 612916
UMLS: C2752047
MeSH: C567865
GARD: 10582
MedDRA: -

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Zechi-Ceide syndrome

ORPHA:217017

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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