Guttmacher syndrome

Also known as: Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
 

Definition

Orphanet

Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.

Go To Source: Orphanet

Classification

Categories:
This Disease:
Guttmacher syndrome
Variants:

Symptoms

Medical Term Other Names Description
Anonychia Absent nails, Aplastic nails Aplasia of the nail.
Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Postaxial polydactyly Postaxial hexadactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
Hand polydactyly Supernumerary finger, Finger polydactyly, Extra finger, Polydactyly of the hand [more] A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Short thumb Hypoplastic thumb, Thumb brachydactyly, Small thumbs, Hypoplastic/small thumb [more] Hypoplasia (congenital reduction in size) of the thumb.

Other Classifiers and IDs