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FGFR2-related bent bone dysplasia

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

COMMON GENES: 1

Jackson-Weiss syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

FGFR2-related bent bone dysplasia

Jackson-Weiss syndrome

FGFR2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

FGFR2-related bent bone dysplasia		Jackson-Weiss syndrome
	Synonym(s): - Perinatal lethal bent bone dysplasia		Synonym(s): - Craniosynostosis - midfacial hypoplasia - foot abnormalities - JWS

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537559

Jackson-Weiss syndrome
	Very frequent - Autosomal dominant inheritance - Broad / bifid big toe - Hypertelorism - Mid-facial hypoplasia / short / small midface - Syndactyly of toes - Tarsal anomaly / fusion / synostosis - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Flat supraorbital ridge - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Prognathism / prognathia - Proptosis / exophthalmos - 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 - Syndactyly of fingers / interdigital palm
FGFR2-related bent bone dysplasia
(no data available)