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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Hartsfield-Bixler-Demyer syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Multiple synostoses syndrome

Hartsfield-Bixler-Demyer syndrome

FGF9	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
GDF5	(UniProt - OMIM)
NOG	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF9	(0.55)	FGFR1

Citations in the biomedical literature:

Multiple synostoses syndrome		Hartsfield-Bixler-Demyer syndrome
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): - Holoprosencephaly - ectrodactyly - cleft lip palate

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Multiple synostoses syndrome		Hartsfield-Bixler-Demyer syndrome
	Very frequent - Autosomal dominant inheritance - Conductive deafness / hearing loss - Restricted joint mobility / joint stiffness / ankylosis - 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 - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Craniostenosis / craniosynostosis / sutural synostosis - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertelorism - Intrauterine growth retardation - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Oligodactyly / ectrodactyly of fingers - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Stillbirth / neonatal death - Telecanthus / canthal dystopy Frequent - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Trident hand / split hand / abnormal median ray