ODCs

Click node...

1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Familial digital arthropathy-brachydactyly

Parastremmatic dwarfism

Citations in the biomedical literature:

Familial digital arthropathy-brachydactyly		Parastremmatic dwarfism

	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: neonatal/infancy 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: C537172


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly

Familial digital arthropathy-brachydactyly		Parastremmatic dwarfism
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Irregular length / shape of fingers		Very frequent - Abnormal gait - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Rough trabeculation of bone - Scoliosis - Short foot / brachydactyly of toes - Short neck - Short stature / dwarfism / nanism Frequent - Brachycephaly / flat occiput - Frontal bossing / prominent forehead - Genu varum - High forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum