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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
45 signs/symptoms

Multiple synostoses syndrome

Apert 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		Apert syndrome
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000168


COMMON SIGNS	- Autosomal dominant inheritance - Broad / bifid thumb - Conductive deafness / hearing loss - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy

Multiple synostoses syndrome		Apert syndrome
	Very frequent - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Symphalangy of fingers Frequent - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Nails anomalies		Very frequent - Brachycephaly / flat occiput - Depressed nasal bridge - Flat face - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Proptosis / exophthalmos - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Chronic arterial hypertension - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Prognathism / prognathia - Strabismus / squint - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Thumb hypoplasia / aplasia / absence - Vertebral segmentation anomaly / hemivertebrae Occasional - Anus ectopia / anteposition / malposition - Arnold-Chiari anomaly - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Corneal ulceration / perforation - Dilated cerebral ventricles without hydrocephaly - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hydrocephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ovary / ovarian teratoma / germinoma - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia