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Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

2 OMIM references -
2 associated genes
22 signs/symptoms

Isolated brachycephaly

ICF syndrome

FGFR3	(UniProt - OMIM)		DNMT3B	(UniProt - OMIM)
TCF12	(UniProt - OMIM)		ZBTB24	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TWIST1	(0.63)	DNMT3B

Citations in the biomedical literature:

Isolated brachycephaly		ICF syndrome
	Synonym(s): - Non-syndromic bicornal synostosis		Synonym(s): - Immunodeficiency - centromeric instability - facial anomalies

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 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: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability

Isolated brachycephaly		ICF syndrome
	Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly		Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Fragile chromosomal site (other than Xq28) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Micrognathia / retrognathia / micrognathism / retrognathism - Repeat respiratory infections - Short stature / dwarfism / nanism Frequent - Anaemia - Communicating hydrocephaly - Depressed nasal bridge - Lymphopenia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Malabsorption / chronic diarrhea / steatorrhea - Polynuclear cells / neutrophils anomalies / neutropenia - T-cell deficiency / cellular immunity deficiency Occasional - Epicanthic folds - Flat face - Low set ears / posteriorly rotated ears - Macroglossia / tongue protrusion / proeminent / hypertrophic - Umbilical hernia