Zechi-Ceide Syndrome

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OMIM 56 612916 ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C2752047 Orphanet 58 ORPHA217017

MedGen 41 C2752047 SNOMED-CT via HPO 68 109504005 11375002 224958001 22810007 228156007 246802000 247578003 248200007 249321001 253101008 253366007 258211005 299462005 300127002 301061006 301348000 32003007 35045004 398206004 398302004 405752007 44057004 48777005 55999004 63567004 70142008 80281008 87979003 91138005 95515009 more UMLS 71 C2752047

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217017 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Zechi-Ceide Syndrome, also known as occipital atretic cephalocele-unusual facies-large feet syndrome, is related to autosomal recessive disease and encephalocele. Affiliated tissues include heart and skin, and related phenotypes are global developmental delay and abnormality of the helix

Wikipedia : ⁷⁴ Zeichi-Ceide syndrome is a rare disease discovered in 2007. It is named after its discoverer, R.M.... more...

More information from OMIM: 612916

Clinical features from OMIM:

612916

Search Clinical Trials , NIH Clinical Center for Zechi-Ceide Syndrome

Search GEO for disease gene expression data for Zechi-Ceide Syndrome.