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Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1

Reynolds syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Greenberg dysplasia

Reynolds syndrome

LBR

(UniProt - OMIM)

LBR

(UniProt - OMIM)


COMMON GENES	LBR

Citations in the biomedical literature:

Greenberg dysplasia		Reynolds syndrome
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): - Primary biliary cirrhosis and systemic scleroderma

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare hepatic disease - Rare renal disease - Rare skin disease - Rare systemic or rheumatologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C537299		External references: 1 OMIM reference - No MeSH references

Greenberg dysplasia		Reynolds syndrome
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Autosomal recessive inheritance - Lymphedema - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Red cell disorders - Rhizomelic micromelia - Rib structure anomalies - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Micrognathia / retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Poorly ossified skull / calvarium - Scalp / skull defect		Very frequent - Asthenia / fatigue / weakness - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hepatomegaly / liver enlargement (excluding storage disease) - Myalgia / muscular pain - Pruritus / itching Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Arthritis / synovitis / synovial proliferation - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Dermal / subcutaneous infiltration / induration - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Fever / chilling - Irregular / in bands / reticular skin hyperpigmentation - Mouth dryness / xerostomia - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin - Tight skin / lack of elasticity - Xerophthalmia / dry eyes Occasional - Ascitis - Cirrhosis - Encephalitis - Hepatitis / icterus / cholestasis - Lichen - Respiratory distress / dyspnea / respiratory failure / lung volume reduction