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Focal facial dermal dysplasia
4 OMIM references -
2 associated genes
13 connected diseases
15 signs/symptoms
Disease Type of connection
5q14.3 microdeletion syndrome
Isolated brachycephaly
Isolated scaphocephaly
Saethre-Chotzen syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Synonym(s):
- Bitemporal aplasia cutis congenital
- Brauer syndrome
- FFDD type I
- Hereditary symmetrical aplastic nevi of temples
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
2 MeSH references: C536385 / C537068
Gene symbol UniProt reference OMIM reference
CYP26C1 Q6V0L0608428
TWIST2 Q8WVJ9607556
Very frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal scarring / cheloids / hypertrophic scars
- Anomalies of eyelids, eyelashes and lacrimal system
- Autosomal dominant inheritance
- Facial dysmorphism
- Irregular / in bands / reticular skin hyperpigmentation
- Muscle anomalies
- Rippled skin
- Skin hypoplasia / aplasia / atrophy

Frequent
- Anomalies of mouth, lip and philtrum
- Anomalies of nose and olfaction
- Depressed nasal bridge
- Eyebrows anomalies
- Pointed chin
- Puffy eyelids