ODCs

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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

Multiple synostoses syndrome

Antley-Bixler syndrome

FGF9	(UniProt - OMIM)	FGFR2	(UniProt - OMIM)
GDF5	(UniProt - OMIM)
NOG	(UniProt - OMIM)


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

Citations in the biomedical literature:

Multiple synostoses syndrome		Antley-Bixler syndrome
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): (no synonyms)

	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 recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537780


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Multiple synostoses syndrome		Antley-Bixler syndrome
	Very frequent - Autosomal dominant inheritance - Conductive deafness / hearing loss - Short hand / brachydactyly - Symphalangy of fingers 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 - Anteverted nares / nostrils - Autosomal recessive inheritance - Brachycephaly / flat occiput - Camptodactyly of fingers - Congenital cardiac anomaly / malformation / cardiopathy - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Humeroradial fusion - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Short / small nose Frequent - Choanal atresia - Craniostenosis / craniosynostosis / sutural synostosis - Proptosis / exophthalmos - Structural anomalies of the kidney and the urinary tract Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat supraorbital ridge - Hypertelorism - Long philtrum - Microstomia / little mouth - Mutiple fractures / bone fragility - Strabismus / squint - Talipes-varus / metatarsal varus - Turricephaly / oxycephaly / acrocephaly