ODCs

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Multiple synostoses syndrome

3 OMIM references -
3 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Thanatophoric dysplasia type 2

2 OMIM references -
1 associated gene
36 signs/symptoms

Multiple synostoses syndrome

Thanatophoric dysplasia type 2

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		Thanatophoric dysplasia type 2
	Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL syndrome		Synonym(s): - Cloverleaf skull - micromelic bone dysplasia - TD2 - Thanatophoric dwarfism - cloverleaf skull - Thanatophoric dwarfism type 2

	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: before age 5 Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


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

Multiple synostoses syndrome		Thanatophoric dysplasia type 2
	Very frequent - Conductive deafness / hearing loss - 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 - Cloverleaf skull - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Short rib cage / thorax - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Increased nuchal translucency - Kyphosis - Polyhydramnios - Proptosis / exophthalmos - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Acanthosis nigricans - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Patent ductus arteriosus - Renal / kidney anomalies