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

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Growth Retardation, Mental Retardation, Phalangeal Hypoplasia Syndrome.

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Extremely rare; autosomal recessive.

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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.

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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]

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