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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Muenke syndrome

1 OMIM reference -
1 associated gene
18 signs/symptoms

Multiple synostoses syndrome

Muenke syndrome

FGF9	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
GDF5	(UniProt - OMIM)
NOG	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF9	(0.88)	FGFR3

Citations in the biomedical literature:

Multiple synostoses syndrome		Muenke 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: unknown 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: C537369


COMMON SIGNS	- Autosomal dominant inheritance - Cone epiphyses / epiphysis - Short hand / brachydactyly

Multiple synostoses syndrome		Muenke syndrome
	Very frequent - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis - Symphalangy of fingers Frequent - Broad / bifid thumb - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies		Frequent - Brachycephaly / flat occiput - Carpal bones fusion / synostosis - Cranial hypertension - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Plagiocephaly - Proptosis / exophthalmos - Ptosis - Sensorineural deafness / hearing loss - Short foot / brachydactyly of toes - Tarsal anomaly / fusion / synostosis Occasional - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly