ODCs

Cytoscape Web

Click node...

Familial digital arthropathy-brachydactyly

1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1

Metatropic dysplasia

1 OMIM reference -
1 associated gene
26 signs/symptoms

Familial digital arthropathy-brachydactyly

Metatropic dysplasia

TRPV4

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	TRPV4

Citations in the biomedical literature:

Familial digital arthropathy-brachydactyly		Metatropic dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Metatropic 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: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537356

Familial digital arthropathy-brachydactyly		Metatropic dysplasia
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Autosomal dominant inheritance - Irregular length / shape of fingers - Short hand / brachydactyly		Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Anomalies of the ribs - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - High forehead - Intervertebral disk anomaly - Kyphosis - Long rib cage / thorax - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Camptodactyly of fingers - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Hydrocephaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears