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Isolated congenital digital clubbing

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

Cranio-osteoarthropathy

1 OMIM reference -
1 associated gene
16 signs/symptoms

Isolated congenital digital clubbing

Cranio-osteoarthropathy

HPGD

(UniProt - OMIM)

HPGD

(UniProt - OMIM)


COMMON GENES	HPGD

Citations in the biomedical literature:

Isolated congenital digital clubbing		Cranio-osteoarthropathy
	Synonym(s): - Isolated congenital acropachy - Isolated congenital nail clubbing		Synonym(s): - Currarino disease - Currarino idiopathic osteoarthropathy - Reginato-Schiapachasse syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: childhood Average age of death: normal Type of inheritance: autosomal recessive

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

Cranio-osteoarthropathy
	Very frequent - Autosomal recessive inheritance - Bone tumefaction / swelling - Cortical anomaly / thick bone cortical layer - Large fontanelle / delayed fontanelle closure - Skull / cranial anomalies - Thick skin / pachydermia / orange skin Frequent - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Hydrarthrosis / articular / joint effusion - Knee anomalies (excluding patella) - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Terminal broadening / clubbing of toes - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Eczema
Isolated congenital digital clubbing
(no data available)