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Aarskog syndrome

Dr Abhilash Sandhyala and Radswiki et al.

The Aarskog syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.

Clinical spectrum

The major facial manifestations of this syndrome include

craniofacial anomalies
- hypertelorism
- broad forehead
- broad nasal bridge
- short nose with anteverted nostrils
- long philtrum
- widow's peak hair anomaly
- ear anomalies
ocular ophthalmic anomalies ²
- optic nerve hypoplasia
- retinal vessel tortuosity
- deficient ocular elevation
- hyperopia
- anisometropia
limb abnormalities
- short broad hands
- brachydactyly
- interdigital webbing
- hypoplasia of the middle phalanges
- proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints
- flat broad feet with bulbous toes.
genital anomalies