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Cranio-osteoarthropathy

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Pachydermoperiostosis

3 OMIM references -
2 associated genes
44 signs/symptoms

Cranio-osteoarthropathy

Pachydermoperiostosis

HPGD	(UniProt - OMIM)		HPGD	(UniProt - OMIM)
			SLCO2A1	(UniProt - OMIM)


COMMON GENES	HPGD

Citations in the biomedical literature:

Cranio-osteoarthropathy		Pachydermoperiostosis
	Synonym(s): - Currarino disease - Currarino idiopathic osteoarthropathy - Reginato-Schiapachasse syndrome		Synonym(s): - PDP - Touraine-Solente-Gole 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 skin disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Bone tumefaction / swelling - Cortical anomaly / thick bone cortical layer - Hydrarthrosis / articular / joint effusion - Restricted joint mobility / joint stiffness / ankylosis - Terminal broadening / clubbing of toes - Thick skin / pachydermia / orange skin

Cranio-osteoarthropathy		Pachydermoperiostosis
	Very frequent - Autosomal recessive inheritance - Large fontanelle / delayed fontanelle closure - Skull / cranial anomalies Frequent - Knee anomalies (excluding patella) - Osteoarthritis - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Eczema		Very frequent - Autosomal dominant inheritance - Bone pain - Epiphyseal anomaly - Hyperhidrosis / increased sweating - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Seborrhea / hyperseborrhea / seborrheic dermatitis Frequent - Abnormal fingernails - Acne / acnea - Coarse face - Cutaneous edema - Decreased body hair / axillar / pubic hairlessness - Osteolysis / osteoclasia / bone destruction / erosions - Ptosis - Thick scalp / scalp dysplasia - Thin / hypoplastic / hyperconvex fingernails Occasional - Abnormal implantation of hair - Acromegaly - Acute palsy - Anaemia - Bone marrow anomalies - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Follicular / erythematous / edematous papules / milium - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Genu varum - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hepatomegaly / liver enlargement (excluding storage disease) - Hot flushes / sensation of cold - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Malabsorption / chronic diarrhea / steatorrhea - Osteonecrosis / bone infarction - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Palmoplantar hyperkeratosis / keratoderma - Scoliosis - Skin tumors / lumps / epidermal cysts - Small hand / acromicria - Splenomegaly