Aarskog syndrome

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The 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.

Clinical spectrumpresentation

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

Pathology

Genetics

It commonly carries an X ~~linked~~-linked inheritance. However, sex ~~influenced autosomal~~-influenced autosomal dominant inheritance is also possible in some families.

-<p>The <strong>Aarskog syndrome</strong> or <strong>Aarskog–Scott syndrome</strong> (also known as the <strong>facio-digito-genital syndrome</strong>) 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.</p><h4>Clinical spectrum</h4><p>The major facial manifestations of this syndrome include:</p><ul>
+<p>The <strong>Aarskog syndrome</strong> or <strong>Aarskog–Scott syndrome</strong> (also known as the <strong>facio-digito-genital syndrome</strong>) 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.</p><h4>Clinical presentation</h4><p>The major facial manifestations of this syndrome include:</p><ul>
~~-<li><a title="Widow's peak hair anomaly" href="/articles/widows-peak-hair-anomaly">widow's peak hair anomaly</a></li>~~
+<li><a href="/articles/widows-peak-hair-anomaly">widow's peak hair anomaly</a></li>
~~-</ul><h4>Pathology</h4><h5>Genetics</h5><p>It commonly carries an X linked inheritance. However, sex influenced autosomal dominant inheritance is also possible in some families.</p>~~
+</ul><h4>Pathology</h4><h5>Genetics</h5><p>It commonly carries an X-linked inheritance. However, sex-influenced autosomal dominant inheritance is also possible in some families.</p>