loading...| Preferred Name |
Focal facial dermal dysplasia |
|
| Synonyms |
FFDD |
|
| Definitions |
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_398166 |
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| alternative_term |
FFDD |
|
| definition |
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 |
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| has_age_of_onset |
Antenatal Neonatal |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
MeSH:D000090303 OMIM:227260 ICD-10:Q82.8 OMIM:136500 UMLS:C2936827 OMIM:614974 OMIM:614973 ICD-11:LD27.0Y |
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| label |
Focal facial dermal dysplasia |
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| notation |
ORPHA:398166 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_398166 |
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| prefLabel |
Focal facial dermal dysplasia |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 147.0 (Case) |
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| treeView | ||
| subClassOf |