Aarskog syndrome or Aarskog–Scott 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.
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Epidemiology
Population prevalence is estimated to be 1/25,000, with a male predominance.
Clinical presentation
The major manifestations of this syndrome include:
- short stature
- decreased bone age
- craniofacial anomalies
- hypertelorism
- broad forehead
- broad nasal bridge
- short nose with anteverted nostrils
- long philtrum
- widow's peak hair anomaly
- ear anomalies
- dental anomalies (missing teeth, delayed eruption, enamel hypoplasia)
- 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
- supernumerary ribs
Pathology
Genetics
It commonly carries an X-linked inheritance. However, sex-influenced autosomal dominant inheritance is also seen in some families. The FDG1 gene on the X-chromosome is the only known gene associated with Aarskog syndrome, implicated in 22% of affected males.
History and etymology
A Norwegian pediatric endocrinologist, Dagfinn Aarskog, first described the syndrome that now bears his name 6,7 in 1970. In the following year Charles I Scott, Jr, a still practising (fl. 2021) pediatrician in the USA described similar imaging findings 8,9.
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