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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Jackson-Weiss syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Pfeiffer syndrome type 1

Jackson-Weiss syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Jackson-Weiss syndrome
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): - Craniosynostosis - midfacial hypoplasia - foot abnormalities - JWS

	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: <1 / 1 000 000 Average age onset: neonatal/infancy 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: C537559


COMMON SIGNS	- Autosomal dominant inheritance - Broad / bifid big toe - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Syndactyly of fingers / interdigital palm - Syndactyly of toes

Pfeiffer syndrome type 1		Jackson-Weiss syndrome
	Very frequent - Brachycephaly / flat occiput - Broad / bifid thumb - Depressed nasal bridge - High forehead - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Low set ears / posteriorly rotated ears - Short foot / brachydactyly of toes - Short hand / brachydactyly Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius		Very frequent - Tarsal anomaly / fusion / synostosis - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Flat supraorbital ridge - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Prognathism / prognathia - Ptosis - Strabismus / squint Occasional - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Oligodactyly / ectrodactyly of toes - Preaxial polydactyly of toes / big toe duplication - Symphalangy of fingers