Crisponi syndrome is a rare disorder characterized by congenital spasms of orofacial muscles, with trismus in response to tactile stimuli and during crying. Characteristic dysmorphic features include round face, chubby cheeks, micrognathia, camptodactyly, and progressive kyphoscoliosis. Major feeding and respiratory difficulties with hyperthermia occur in the course of the disease and usually lead to death in the first months of life. Later on, hyperexcitability disappears in the rare survivors, but children develop impaired thermoregulation and disabling abnormal sweating in response to cold temperatures, and sweat very little with heat.
The differential diagnosis of Crisponi syndrome includes Stüve-Wiedemann syndrome with a significant symptomatic overlap between the two. However, the main features of Stüve-Wiedemann syndrome; congenital bowing of the lower limbs with internal cortical thickening and metaphyseal changes have not been reported in patients with Crisponi syndrome. Medical intervention is needed in the neonatal period due to impaired sucking and swallowing that result in poor feeding. For those who survive infancy with this disorder, Clonidine can be used to treat abnormal sweating.
Dagoneau et al (2007) reported a female patient of a Yemenite origin, whose parents were first cousins. Symptoms included many indicative dysmorphic features such as pursed appearance of the mouth during crying, bilateral camptodactyly, poor suckling, and swallowing difficulties. The baby girls harbored a c.527+5G>A mutation in the CRLF1 gene.
[See: United Arab Emirates > Dagoneau et al., 2007].