Skip to Main Content


A very rare syndrome characterized by craniofacial and skeletal anomalies.


Clinical evocation on short stature associated with facial skeletal anomalies and hypernasality. There is no 22q11 microdeletion. There is no mental retardation. Clinical features involve orofacial structures (epicanthal folds, hypertelorism, posteriorly angulated ears, narrow and high-arched palate, broad and high nasal bridge) and skeleton (delayed bone age, mesomelic brachymelia, short broad hands, short stubby thumbs, prominent finger pads, small feet, hyperextensible hand joints).


Careful intraoperative positioning is necessary. Limb anomalies can create difficulties with noninvasive blood pressure measurement, venous access, and regional anesthesia. Direct laryngoscopy and tracheal intubation can be difficult.


Robinow Syndrome: An extremely rare inherited disorder characterized by mild to moderate short stature due to postnatal growth retardation. Distinctive craniofacial abnormalities associated with skeletal malformations and genital anomalies complete the clinical presentation. The facial features of infants with this disorder resemble those of an 8-week-old fetus. The presence of macrocephaly, frontal bossing, severe ocular hypertelorism, anteverted nostril, and depressed nasal bridge are characteristic of the facial features. It is believed to be an autosomal dominant inheritance; however, some individuals present with an autosomal recessive mode of inheritance.


Aarskog Syndrome: A rare inherited disorder combining facial, skeletal, and genital abnormalities. The clinical features include a disproportionate short stature, broad facial features, short broad hands and feet, an abnormal fold of skin extending around the base of the penis (“shawl” scrotum), and spinal malformations. Mild mental retardation may occur but is not considered a consistent feature of Aarskog Syndrome. It is inherited as an X-linked recessive trait.

Teebi AS, Qumsiyeh MB, Meyers-Seifer CH, et al: Velo-facial-skeletal syndrome in a mother and daughter. Am J Med Genet 58:8, 1995.  [PubMed: 7573161]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.