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Microphthalmia with limb anomalies

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1

Reynolds syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Microphthalmia with limb anomalies

Reynolds syndrome

FNBP4	(UniProt - OMIM)		LBR	(UniProt - OMIM)
SMOC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FNBP4	(0.85)	LBR

Citations in the biomedical literature:

Microphthalmia with limb anomalies		Reynolds syndrome
	Synonym(s): - Anophthalmia-syndactyly syndrome - OAS - Ophthalmoacromelic syndrome - Waardenburg anophthalmia syndrome		Synonym(s): - Primary biliary cirrhosis and systemic scleroderma

	Classification (Orphanet): - 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: adult 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 - No MeSH references		External references: 1 OMIM reference - No MeSH references

Microphthalmia with limb anomalies		Reynolds syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal recessive inheritance - Blepharophimosis / short palpebral fissures - Carpal bones fusion / synostosis - Eyebrows anomalies - Frontal bossing / prominent forehead - Lower limb segmental anomalies - Metacarpal anomalies / Archibald's sign - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Synostosis - Upper limb segmental anomalies - Wide space between 1st-2nd toes Frequent - Abnormal vertebral size / shape - Bone / osseous hypoplasia - Cleft lip - Clinodactyly of fifth finger - Failure to thrive / difficulties for feeding in infancy / growth delay - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Oligodactyly / ectrodactyly of fingers - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Simian crease / transverse / unique palmar crease - Tarsal anomaly / fusion / synostosis - Thumb anomalies (excluding hypoplasia) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Upper limb polydactyly / hexadactyly Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed premaxillary region / midface - Ectopic / horseshoe / fused kidneys - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Postaxial polydactyly of toes / fifth supernumerary toe - Talipes-valgus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Varices / varicous veins / venous insufficiency		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