Marked feeding difficulties require nasogastric tube feeding. Prognosis Characteristic hyperthermic crises frequently lead to death within the first months of life. [orpha.net]

Associated physical and constitutional findings include characteristic facial anomalies, camptodactyly, intermittent hyperthermia, and feeding difficulties. [unboundmedicine.com]

An apnea monitor is recommended; intervention for feeding difficulties is required; bracing, occupational therapy, or plastic surgery may be necessary to correct congenital finger and hand deformities. [ncbi.nlm.nih.gov]

Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis [portal.findresearcher.sdu.dk]

[…] with Crisponi syndrome. 24 Hakan N...Ceylaner S 23181498 2012 10 Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. 24 Dessi A...Ottonello G 22381110 2012 11 Homozygous mutation of CRLF-1 gene in a Turkish [malacards.org]

The aim of this study was to report on three new patients with CS and review the Turkish patients. We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene. [ingentaconnect.com]

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. Clin Dysmorphol2011;20:187-9. 23. Dessì A, Fanos V, Crisponi G, Frau A, Ottonello G. [jcnonweb.com]

Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H: Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense [karger.com]

Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. [uniprot.org]

They also had some additional abnormalities, in clud in g a high-arched palate, nasal voice, depressed nasal bridge, in ability to fully extend the ir elbows, and kyphoscoliosis. [yumpu.com]

Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature. [orpha.net]

Frequent - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Restricted joint mobility / joint stiffness / ankylosis Occasional - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia [csbg.cnb.csic.es]

(e) Patient 16, at the age of 18 years, presenting micrognathia, kyphosis, scoliosis and flexion contractures of the elbows. [nature.com]

Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis Frequent - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Restricted joint mobility / joint stiffness / ankylosis [csbg.cnb.csic.es]

RP is clinically characterized by retinal pigment deposits visible on fundus examination, nyctalopia ("night blindness"), followed by progressive degeneration of the photoreceptors, which eventually leads to blindness (van Soest et al. 1999. [preventiongenetics.com]

neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing of the eyelids) Flat or depressed nasal bridge Highly arched palate Long philtrum (groove below nose) Two types of Crisponi syndrome/CISS have been described [forgottendiseases.org]

Life expectancy is probably normal. [7] Summary The manifestations of Crispony syndrome at birth is mimicking neonatal tetanus, with frequent facial spasms and trismus. [saudijhealthsci.org]

cheek bone, anteverted nostrils with broad nose, small mouth, and micrognathia.[4] Major feeding and respiratory difficulties with episodes of hyperthermia occur during the course of the disease and usually lead to death within the first months of life [jcnonweb.com]

But death may occur in the first few months because of hyperthermic crisis and generalized seizures. [saudijhealthsci.org]