Presentation The patient is known to have Stuve-Wiedemann Syndrome with lower limb deformity. X-rays performed to assess possible surgical correction.[radiopaedia.org]
Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature).[rarediseases.info.nih.gov]
Years Published 2004, 2018 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.[rarediseases.org]
feeding [ more ] 0011968 Femoral bowing Bowed thighbone 0002980 Flared metaphysis Flared wide portion of long bone 0003015 Flexion contracture of toe 0005830 Frontal bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ][rarediseases.info.nih.gov]
Metaphyseal widening Broad wide portion of long bone 0003016 Micromelia Smaller or shorter than typical limbs 0002983 Paresthesia Pins and needles feeling Tingling [ more ] 0003401 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent[rarediseases.info.nih.gov]
insufficiency Respiratory impairment 0002093 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short[rarediseases.info.nih.gov]
Some infants with STWS may develop episodes where they repeatedly stop breathing during sleep (sleepapnea). Feeding and swallowing difficulties may also occur.[rarediseases.org]
[…] abnormality [ more ] 0000682 Adducted thumb Inward turned thumb 0001181 Autosomal recessive inheritance 0000007 Blotching pigmentation of the skin 0007610 Broad ischia 0100865 Contracture of the proximal interphalangeal joint of the 5th finger 0009185 Dysphagia[rarediseases.info.nih.gov]
Additional findings have been reported in some children with STWS including high blood pressure of the main artery of the lungs (pulmonary hypertension), liver (hepatic) failure, and a form of clubfoot in which the heel is turned outward away from the[rarediseases.org]
[…] bone 0003016 Micromelia Smaller or shorter than typical limbs 0002983 Paresthesia Pins and needles feeling Tingling [ more ] 0003401 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Short stature Decreased[rarediseases.info.nih.gov]
[…] more ] 0004322 Skeletal dysplasia 0002652 Thickened cortex of long bones 0000935 30%-79% of people have these symptoms Apnea 0002104 Asthma 0002099 Elbow flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Genu[rarediseases.info.nih.gov]
skin 0000963 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar deviation of finger Finger bends toward pinky 0009465 Wide nasal base Broad base of nose Broad nasal base Increased width of base of nose Increased width of nasal base Wide[rarediseases.info.nih.gov]
STWS is often fatal during the neonatal period due to respiratory distress or hyperthermic episodes. 0000504 Camptodactyly of finger Permanent flexion of the finger 0100490 Feeding difficulties in infancy 0008872 Hyperhidrosis Excessive sweating Increased[rarediseases.info.nih.gov]
nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single transverse palmar crease 0000954 Square face[rarediseases.info.nih.gov]
neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone[rarediseases.info.nih.gov]
Some affected individuals develop symptoms similar to those associated with dysautonomia. (For more information on dysautonomia, see the Related Disorders section below).[rarediseases.org]
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet J Rare Dis. 2014 Mar 12;9:34. doi: 10.1186/1750-1172-9-34. Review.[ghr.nlm.nih.gov]
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet Journal of Rare Diseases. 2014;9:34. Accessed Feb. 5, 2018. Crisponi Syndrome. Orphanet. Last update: June 2008.[rarediseases.org]
This might include prevention of choking while eating via a tube that connects the nose to the stomach for feeding (nasogastric tube), prevention of inhaling food on accident (lung aspiration), or physiotherapy and/or surgery to correct bone malformations[rarediseases.org]