ODCs

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3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Multiple synostoses syndrome

Jackson-Weiss syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF9	(0.62)	FGFR2

Citations in the biomedical literature:

Multiple synostoses syndrome		Jackson-Weiss syndrome
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): - Craniosynostosis - midfacial hypoplasia - foot abnormalities - JWS

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic 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: <1 / 1 000 000 Average age onset: childhood 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: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537559


COMMON SIGNS	- Autosomal dominant inheritance - Symphalangy of fingers

Multiple synostoses syndrome		Jackson-Weiss syndrome
	Very frequent - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly Frequent - Broad / bifid thumb - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies		Very frequent - 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 - Syndactyly of fingers / interdigital palm