EN1-related dorsoventral syndrome

MONDO:1040032

A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.

Also known as: ENDOVE syndrome, ENDOVES

0 clinical trials for this condition and its sub-types, 0 tagged with EN1-related dorsoventral syndrome itself.

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↑ Hereditary disease (18187)

Sub-types of EN1-related dorsoventral syndrome

ENDOVE syndrome, limb-brain type 0 trials
ENDOVE syndrome, limb-only type 0 trials

Including sub-types (0) Tagged with EN1-related dorsoventral syndrome (0)

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