ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
22 signs/symptoms

Familial digital arthropathy-brachydactyly

Spondylometaphyseal dysplasia, Kozlowski type

Citations in the biomedical literature:

Familial digital arthropathy-brachydactyly		Spondylometaphyseal dysplasia, Kozlowski type

	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

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		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 dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535797


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly

Familial digital arthropathy-brachydactyly		Spondylometaphyseal dysplasia, Kozlowski type
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Irregular length / shape of fingers		Very frequent - Abnormal gait - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Platyspondyly - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Delayed bone age - Depressed nasal bridge - Genu valgum - High forehead - Joint / articular deformation - Kyphosis - Pectus carinatum - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short neck Occasional - Clavicle absent / abnormal - Epiphyseal anomaly - Narrow rib cage / thorax - Odontoid hypoplasia