FOCAL FACIAL DERMAL DYSPLASIA 4

General Information (adopted from Orphanet):

Synonyms, Signs: FFDD4
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614974
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
(OMIM) Elastosis, nonreactive, deep and superficial 1 / 7739
2
(OMIM) Hyperpigmented rim with long fine hairs encircling the lesions (in some patients) 1 / 7739
3
(OMIM) Vesicular lesions, congenital bilateral, between ear and corner of mouth 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Polypoid lesions of buccal mucosa, 1 to 2 cm in diameter (in some patients) 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. FFDD4 is characterized by isolated, preauricular skin lesions (summary by Slavotinek et al., 2013). ...
Clinical Description OMIM Prescott et al. (2006) described 3 unrelated children, a girl and 2 boys, with distinctive facial skin lesions present at birth, consisting of 2 to 3 well-circumscribed round or oval vesicular lesions, 0.5 cm to 1 cm in ...
Molecular genetics OMIM In a 6-year-old girl and her 4-year-old brother with focal facial dermal dysplasia who were negative for mutation in the TWIST2 gene (607556), Slavotinek et al. (2013) performed exome sequencing and identified compound heterozygosity for a duplication and ...