Focal facial dermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Bitemporal aplasia cutis congenital
FFDD type I
Brauer syndrome
Hereditary symmetrical aplastic nevi of temples
Number of Symptoms 16
OrphanetNr: 79133
OMIM Id: 136500
227260
614973
614974
ICD-10:
UMLs: C1744559
C2936827
MeSH: C536385
C537068
MedDRA:
Snomed: 239051001
254238008
403771007

Prevalence, inheritance and age of onset:

Prevalence: 81 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
2
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
3
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
4
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
5
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
6
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
7
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
8
 (HPO:0100540) Palpebral edema Frequent [Orphanet] 31 / 7739
9
 (HPO:0100678) Premature skin wrinkling Very frequent [Orphanet] 25 / 7739
10
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
11
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
12
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
13
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
14
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
15
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: