Skip to Main Content


An inherited disease with facial deformations, severe mental retardation, and acral limb deficiencies.


Growth Retardation, Mental Retardation, Phalangeal Hypoplasia Syndrome.


Extremely rare; autosomal recessive.


Features include malformations of the face (partial mandibular absence, narrow forehead, low hair line) and limbs (small feet and hands, terminal hypoplasia of the toes and fingers, small or absent toenails and fingernails) in combination with neurologic anomalies (severe mental retardation, seizures, generalized hypotonia). Intrauterine growth retardation and postnatal growth failure resulting in short stature have been reported.


Anesthesia in this disorder has not been described. The features of the syndrome suggest mask ventilation and direct laryngoscopy may be difficult. Chronic antiepileptic treatment can alter the metabolism of some anesthetic agents.

Cartwright J, Nelson M, Fryns JP: Preand postnatal growth retardation—severe mental retardation—acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism? Genet Couns 2:147, 1991.  [PubMed: 1801850]

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.