Focal facial dermal dysplasia type III

Orpha code: 1807OMIM code: 227260

Definition

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

Disease data
Classification

Clinical subtype

Synonyms
FFDD type III
FFDD type III
FFDD3
Ogniskowa dysplazja skóry twarzy 3, typ Setleisa
Zespół Setleisa
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
ORPHA code
1807
OMIM code
227260
ICD10 code
Q82.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl