ODCs

Cytoscape Web

Click node...

FGFR2-related bent bone dysplasia

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

FGFR2-related bent bone dysplasia

Pfeiffer syndrome type 1

FGFR2	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
			FGFR2	(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

FGFR2-related bent bone dysplasia		Pfeiffer syndrome type 1
	Synonym(s): - Perinatal lethal bent bone dysplasia		Synonym(s): - Classic Pfeiffer syndrome

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Pfeiffer syndrome type 1
	Very frequent - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Low set ears / posteriorly rotated ears - Proptosis / exophthalmos - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius
FGFR2-related bent bone dysplasia
(no data available)