Steatocystoma Multiplex with Natal Teeth

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OMIM 56 184510 MESH via Orphanet 44 C537487 ICD10 via Orphanet 33 L72.2 UMLS via Orphanet 72 C1866650

Orphanet 58 ORPHA3184 MedGen 41 C1866650 SNOMED-CT via HPO 68 109433009 17790008 21995002 263681008 58748004 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3184 Definition The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. Epidemiology It has been described a five-generation Chinese family with at least 21 affected patients. Genetic counseling The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Steatocystoma Multiplex with Natal Teeth, also known as steatocystoma multiplex-natal teeth syndrome, is related to pachyonychia congenita 1 and steatocystoma multiplex. Affiliated tissues include skin, and related phenotypes are abnormality of the nail and natal tooth

More information from OMIM: 184510

Clinical features from OMIM:

184510

Search Clinical Trials , NIH Clinical Center for Steatocystoma Multiplex with Natal Teeth

Search GEO for disease gene expression data for Steatocystoma Multiplex with Natal Teeth.