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MCID: ORL024
MIFTS: 14
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Oral and Digital Anomalies with Ichthyosis
Categories:
Fetal diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Oral and Digital Anomalies with Ichthyosis:
Characteristics:Orphanet epidemiological data:58
ichthyosis-oral and digital anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2272 Definition Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.
MalaCards based summary : Oral and Digital Anomalies with Ichthyosis, also known as unusual facies, digital abnormalities, and ichthyosis, is related to ichthyosis. Related phenotypes are narrow mouth and thin upper lip vermilion
More information from OMIM:
258840
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Diseases related to Oral and Digital Anomalies with Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Oral and Digital Anomalies with Ichthyosis:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:258840 (Updated 05-Apr-2021) |
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Articles related to Oral and Digital Anomalies with Ichthyosis:
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Search
GEO
for disease gene expression data for Oral and Digital Anomalies with Ichthyosis.
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