ODCs

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3 OMIM references -
3 associated genes
5 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

4 OMIM references -
2 associated genes
15 signs/symptoms

Isolated scaphocephaly

Focal facial dermal dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TWIST1	(0.63)	TWIST2

Citations in the biomedical literature:

Isolated scaphocephaly		Focal facial dermal dysplasia
	Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis		Synonym(s): - Bitemporal aplasia cutis congenital - Brauer syndrome - FFDD type I - Hereditary symmetrical aplastic nevi of temples

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		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: 3 OMIM references - No MeSH references		External references: 4 OMIM references - 2 MeSH references: C536385 / C537068


COMMON SIGNS	- Autosomal dominant inheritance

Isolated scaphocephaly		Focal facial dermal dysplasia
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Cranial hypertension - Frontal bossing / prominent forehead - Prominent occiput / occipital bossing		Very frequent - Abnormal fat distribution / lipodystrophy - Abnormal scarring / cheloids / hypertrophic scars - Anomalies of eyelids, eyelashes and lacrimal system - 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