FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: BITEMPORAL FORCEPS MARKS SYNDROME
FOCAL FACIAL DERMAL DYSPLASIA, TYPE II, FORMERLY
FACIAL ECTODERMAL DYSPLASIA
SETLEIS SYNDROME
FFDD3
Number of Symptoms 15
OrphanetNr:
OMIM Id: 227260
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005280) Depressed nasal bridge 381 / 7739
2
(HPO:0000629) Periorbital fullness 13 / 7739
3
(HPO:0008496) Multiple rows of eyelashes 1 / 7739
4
(HPO:0000414) Bulbous nose 63 / 7739
5
(HPO:0000561) Absent eyelashes 18 / 7739
6
(HPO:0002023) Anal atresia 135 / 7739
7
(HPO:0008509) Aged leonine appearance 1 / 7739
8
(HPO:0000968) Ectodermal dysplasia 46 / 7739
9
(OMIM) Puckered skin about the eyes 1 / 7739
10
(OMIM) Bilateral temporal marks 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Eyebrows slanted upward 1 / 7739
13
(OMIM) Redundant facial soft tissue 1 / 7739
14
(OMIM) Rubbery feel of the nose and chin 1 / 7739
15
(OMIM) Increased mobility of facial skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, ...
Clinical Description OMIM Setleis et al. (1963) described 5 children in 3 apparently unrelated Puerto Rican families who had an aged leonine appearance with puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids ...
Molecular genetics OMIM Tukel et al. (2010) analyzed the candidate gene TWIST2 (607556) in the Puerto Rican family with Setleis syndrome, originally reported by Setleis et al. (1963), and in the consanguineous Arab family previously reported by Al-Gazali and Al-Talabani (1996), ...