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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Osteoglophonic dwarfism

1 OMIM reference -
1 associated gene
20 signs/symptoms

Pfeiffer syndrome type 1

Osteoglophonic dwarfism

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


COMMON GENES	FGFR1

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Osteoglophonic dwarfism
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - 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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536050


COMMON SIGNS	- Autosomal dominant inheritance - Hypertelorism - Short hand / brachydactyly

Pfeiffer syndrome type 1		Osteoglophonic dwarfism
	Very frequent - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - High forehead - High vaulted / narrow palate - 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 - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius		Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Craniostenosis / craniosynostosis / sutural synostosis - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Undescended / ectopic testes / cryptorchidia / unfixed testes