Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. [diseaseinfosearch.org]

The tongue body is slightly bulky Feeble voice, breath shortness, apathy, general weakness, poor appetite, palpitation, dizziness, abdominal pain that feel alleviated when pressed, incontinence, deep and weak pulse, the tongue is pale and bulky and tender [shen-nong.com]

He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. [ghr.nlm.nih.gov]

coffee or cola – caffeine and other stimulants can stop you relaxing your symptoms are very bad or getting worse Raynaud's is affecting your daily life you only have numbness on one side of your body you also have joint pain, skin rashes or muscle weakness [nhs.uk]

After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. [diseaseinfosearch.org]

Dermographism. [13] Intermittent fevers can rise 40 C. Chills are uncommon. Fatigue and headaches are common with fevers. [autoinflammatory-search.org]

This condition rarely occurs in infancy, and DOES NOT present with fevers or arthralgias. [autoinflammatory.org]

[…] awareness of the dangers relating to high fever. [adc.bmj.com]

If it is accompanied by unexplained weight loss or fever or by palpitations, shortness of breath, or chest discomfort, a physician should be consulted. [wikidoc.org]

From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. [diseaseinfosearch.org]

Common clinical features of Crisponi syndrome Medical problems Camptodactyly (permanent bending of one or more fingers; see photo below) Spinal curvature abnormalities (scoliosis, kyphosis, or both) Intellectual disability (in less than half of patients [forgottendiseases.org]

A Disabling Syndrome The autonomic nervous system regulates bodily functions that are not under conscious control, like heartbeat, blood pressure, body temperature, digestion and breathing. [nytimes.com]

Genetic Testing - Intellectual Disability related HIVEP2 (HIVEP2-related Intellectual Disability) - Gen HIVEP2. Genetic Testing - Intellectual Disability related SYNGAP1 (SYNGAP1-related Intellectual Disability) - Gen SYNGAP1. [ivami.com]

Primary Raynaud’s is not usually “disabling” in the typical sense, but sufferers can experience great discomfort and pain – requiring lifestyle adjustments to minimize exposure to cold and stress. [raynauds.org]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. [diseaseinfosearch.org]

He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. [genecards.org]

Its most obvious characteristic is contractions of the face that are triggered by crying or in response to being touched for feeding or changing diapers (see photo at right). [forgottendiseases.org]

Feeding difficulties and hyperthermia often resolve after infancy in the rare surviving patients, who then develop scoliosis and sometimes psychomotor retardation. [nature.com]

Our patient was hypotonic at birth and experienced severe feeding difficulties. He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

This trait can create feeding difficulties, and many infants must be tube fed. Infants may also drool excessively during periods of facial contractions. As an infant relaxes, the contractions begin to disappear and the drooling also eases off. [forgottendiseases.org]

The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. [ghr.nlm.nih.gov]

Glaucoma, and/or cataracts in some cases. [106] Visual inattention. [104], [105], [106] and ocular jerking in some cases. [107] Not noted. [104], [105], [106] Vomiting, feeding difficulties are common. [107] Uncommon: hepatomegaly, splenomegaly (hepatosplenomegaly [autoinflammatory-search.org]

Normal cognitive function. [98] Not noted [98] Not noted [98] Interstitial lung disease and pulmonary fibrosis noted on CT scan in many patients, that in some cases can be fatal. [82] [93] Emphysema [98] Tachypnea at birth [92], abnormal pulmonary-function [autoinflammatory-search.org]

“The common cold is the most frequent acute illness in the United States and throughout the industrialized world. [everydayhealth.com]

Common clinical features of Crisponi syndrome Medical problems Camptodactyly (permanent bending of one or more fingers; see photo below) Spinal curvature abnormalities (scoliosis, kyphosis, or both) Intellectual disability (in less than half of patients) Cyanosis [forgottendiseases.org]

Acrocyanosis is manifested by changes in skin colour towards cyanosis after exposure to cold. Other symptoms could be dysfunction of hand and fingers in the acrocyanotic area. [ilocis.org]

Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

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]

He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

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

Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. Sequence similarities Belongs to the IL-6 superfamily. Cellular localization Secreted. [abcam.com]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. [diseaseinfosearch.org]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. [genecards.org]

Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC : Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. Am J Med Genet A 2005; 133 : 90–92. 6. [nature.com]

Some patients still showed hypersalivation or hyperthermia in adulthood ( Table 1 and Supplementary Table 1 ). [nature.com]

[…] the acute episodes of familial cold autoinflammatory syndrome can include: Fever – 93%, lasts less than 24 hours, preceding chills, associated with profuse sweating, often occur at night, settle within hours Skin rash – 100%, see below Muscle pain ( myalgia [dermnetnz.org]

Fevers 39–40 C myalgia, headaches with flares. Sensorineural hearing loss. [autoinflammatory-search.org]

Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. [diseaseinfosearch.org]

Although sweating is a normal bodily function, when someone sweats excessively, it can be embarrassing. Sweating is a common symptom of anxiety. One theory is that anxiety causes the body temperature to rise, which in turn, causes sweating. [healthcentral.com]

Diabetes and sweating Sweating helps cool the body, but diabetes can disrupt a person's ability to sweat. [medicalnewstoday.com]

The silastic sweat imprint test measures where you sweat. During the thermoregulatory sweat test, your body is coated with a powder that changes color in areas where you sweat. [healthline.com]

What does the scent of sweat tell us? Sweat may play a role in nonverbal human communication. [experiencelife.com]

Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. [diseaseinfosearch.org]

[…] people are not seen for treatment. [ 2 ] Hyperhidrosis occurs both in children and adults, with the average age of onset of primary hyperhidrosis being 14-25 years. [ 3 ] Causes Generalised hyperhidrosis [ 1 ] Pregnancy. [patient.info]

T4 sympathectomy for palmar hyperhidrosis: an effective approach that simultaneously minimzes compensatory hyperhidrosis. Kaohsiung J Med Sci. 2005 Jul. 21(7):310-3. [Medline]. Heckmann M. [emedicine.medscape.com]

ICD-10-CM Codes › R00-R99 Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified › R50-R69 General symptoms and signs › R61- Generalized hyperhidrosis › Generalized hyperhidrosis 2016 2017 2018 2019 Billable/Specific Code [icd10data.com]

Excessive sweating can result in sweaty palms (palmar hyperhidrosis), sweaty feet (plantar hyperhidrosis) or sweaty armpits (axillary hyperhidrosis). [healthxchange.sg]

From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. [diseaseinfosearch.org]

During development, catecholaminergic and cholinergic neurotransmission is required for the induction of secretory function, whereas cholinergic transmission becomes crucial for the maintenance of the secretory responsiveness. 2 The abnormal sweat response [neurology.org]

In this way, abnormal sweating is another characteristic of dysautonomia. [mitoaction.org]

The role of these genes in sympathetic nervous system development may help explain the abnormal sweating that is characteristic of this condition, including unusual sweating patterns and related problems with body temperature regulation. [ghr.nlm.nih.gov]

skin of the axillae, feet, hands, or face (avoiding the eyes) at night just before sleep and washed off in the morning. [patient.info]

They are also constipated, lethargic, and have dry skin. [fitness.mercola.com]

keratolysis, pneumonia, relapsing fever, sepsis, septic shock, tetanus, tuberculosis, viral infections Musculoskeletal/Orthopedic Lobstein disease, osteomyelitis, pachydermoperiostosis, reflex sympathetic osteodystrophy, rickets Neurologic Autonomic [wikidoc.org]

Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

[…] of patients) Clubfoot (in a minority of patients) Patients with Crisponi syndrome also have a characteristic facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set [forgottendiseases.org]

Low-set ears. High risk for severe varicella infection. [109] Some with symptoms of Raynaud's. [111] One case with Sjögren syndrome-like symptoms and severe scleroderma. [112] Most patients do not have neurologic involvement. [autoinflammatory-search.org]

Unfortunately, however, excessive sweating and fear of embarrassment can increase anxiety, causing more sweating. It becomes a vicious cycle and just the fear of sweating can induce anxiety. [healthcentral.com]

Sweating as an autonomic nervous system function occurs in order to cool the body (sweating independent of environmental temperature is related to the sympathetic nervous system, as a response to anxiety, fear, stress, etc.). [mitoaction.org]

Strong emotions (anger, fear) and remembrance of past trauma can also trigger profuse sweating. The vast majority of sweat glands in the body are innervated by sympathetic cholinergic neurons. [wikidoc.org]

It commonly occurs in response to embarrassment, anxiety, fear, and severe pain. Sweating also occurs at the menopause and after ovarian or testicular ablation in addition to the characteristic hot flushes (Hargrove and Eisenberg 1995). [jpalliativecare.com]

Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

[…] than half of patients) Cyanosis Seizures (in a minority of patients) Clubfoot (in a minority of patients) Patients with Crisponi syndrome also have a characteristic facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded [forgottendiseases.org]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. [diseaseinfosearch.org]

Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. [genecards.org]