/Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

MONDO:0007180

Also Known As

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalitiesDe Hauwere syndromeiris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

External Resources

OMIM

OMIM:109120 ↗

Orphanet

Orphanet:1831 ↗

Related Diseases

inherited bleeding disorder, platelet-type

MONDO:0000009

Rare

infantile liver failure

MONDO:0000023

Rare

febrile seizures, familial

MONDO:0000032

hereditary hypophosphatemic rickets

MONDO:0000044

Rare

hypothyroidism, congenital, nongoitrous

MONDO:0000045

Rare

isolated microphthalmia

MONDO:0000062

← Back to All Diseases