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Multiple synostoses syndrome
3 OMIM references -
3 associated genes
59 connected diseases
10 signs/symptoms
Disease Type of connection
Proximal symphalangism
Brachydactyly type A2
Brachydactyly type C
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Brachydactyly type B2
Fibular aplasia - complex brachydactyly
Stapes ankylosis with broad thumbs and toes
Tarsal-carpal coalition syndrome
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Giant cell glioblastoma
Gliosarcoma
Pfeiffer syndrome type 1
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Heritable pulmonary arterial hypertension
Hypochondroplasia
Idiopathic pulmonary arterial hypertension
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Muenke syndrome
Pulmonary venoocclusive disease
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
20p12.3 microdeletion syndrome
Fibrodysplasia ossificans progressiva
Situs ambiguus
Estrogen resistance syndrome
14q22q23 microdeletion syndrome
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Microphthalmia with brain and digit anomalies
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
CARASIL
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pilocytic astrocytoma
Septo-optic dysplasia
Synonym(s):
- Deafness - symphalangism syndrome, Hermann type
- Facio-audio-symphalangism
- Symphalangism - brachydactyly
- WL syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
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
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGF9 P31371600921
GDF5 P43026601146
NOG Q13253602991
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