Alsing syndrome

MONDO:0021856

An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.

Also known as: atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality

1 clinical trial for this condition and its sub-types, 0 tagged with Alsing syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Inherited kidney disorder (317)

Including sub-types (1) Tagged with Alsing syndrome (0)

Trials to join now! 1

Could a diabetes drug protect kidneys in children with genetic disease?

Disease control Recruiting now

This study tests whether adding dapagliflozin (a diabetes drug) to standard care reduces protein leakage in the urine of children with hereditary kidney diseases. About 44 children will receive either dapagliflozin plus standard care or standard care alone for 12 weeks, then swit…

Phase 3 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control

Last updated Jul 08, 2026 00:00 UTC

Alsing syndrome

Where it sits in the disease tree

Could a diabetes drug protect kidneys in children with genetic disease?