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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Pfeiffer syndrome type 2

1 associated gene
34 signs/symptoms

Multiple synostoses syndrome

Pfeiffer syndrome type 2

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		Pfeiffer syndrome type 2
	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 eye disease - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Broad / bifid thumb - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly

Multiple synostoses syndrome		Pfeiffer syndrome type 2
	Very frequent - Conductive deafness / hearing loss - Symphalangy of fingers Frequent - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies		Very frequent - Arnold-Chiari anomaly - Broad / bifid big toe - Cloverleaf skull - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Choanal atresia - External auditory canal atresia / stenosis / agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Stenosis of aqueduc of Sylvius - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Tracheomalacia / tracheobronchomalacia Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Early death / lethality - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Visual loss / blindness / amblyopia