ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

3 OMIM references -
3 associated genes
10 signs/symptoms

Acromesomelic dysplasia, Grebe type

Multiple synostoses syndrome

Citations in the biomedical literature:

Acromesomelic dysplasia, Grebe type		Multiple synostoses syndrome
	Synonym(s): - Chondrodysplasia, Grebe type		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		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


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

Acromesomelic dysplasia, Grebe type		Multiple synostoses syndrome
	Very frequent - Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Carpal bones fusion / synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Thumb hypoplasia / aplasia / absence - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death		Very frequent - Autosomal dominant inheritance - 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