Symptoma

Stüve-Wiedemann Syndrome

Neonatal Schwartz-Jampel Syndrome

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]

  • Poor Feeding

    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]

  • Short Finger

    finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial [rarediseases.info.nih.gov]

  • Single Transverse Palmar Crease

    transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar deviation of finger Finger [rarediseases.info.nih.gov]

  • Respiratory Insufficiency

    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]

  • Nasal Voice

    voice 0001611 Opacification of the corneal stroma 0007759 Pathologic fracture Spontaneous fracture 0002756 Pulmonary arterial hypertension Increased blood pressure in blood vessels of lungs 0002092 Pulmonary arterial medial hypertrophy 0004964 Pulmonary [rarediseases.info.nih.gov]

  • Dysphagia

    […] 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]

  • Trismus

    Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Scoliosis Abnormal curving of the spine 0002650 Smooth tongue Smooth surface of tongue 0010298 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Trismus [rarediseases.info.nih.gov]

  • Hypertension

    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]

  • Low Set Ears

    ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Metaphyseal rarefaction 0004980 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Midface retrusion Decreased size of midface Midface [rarediseases.info.nih.gov]

  • Decrease in Height

    […] 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]

  • Genu Valgum

    […] 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]

  • Recurrent Fractures

    fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Scoliosis [rarediseases.info.nih.gov]

  • Sweating

    sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Hypohidrosis Decreased ability to sweat Decreased sweating Sweating, decreased [ more ] 0000966 Metaphyseal widening Broad wide portion of long bone 0003016 Micromelia [rarediseases.info.nih.gov]

  • Thin Skin

    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]

  • Hyperhidrosis

    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]

  • Short Nose

    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 Short skankbone [ more ] 0005736 Single transverse [rarediseases.info.nih.gov]

  • Short Neck

    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]

  • Dysautonomia

    Some affected individuals develop symptoms similar to those associated with dysautonomia. (For more information on dysautonomia, see the Related Disorders section below). [rarediseases.org]

Standard Therapies Treatment The treatment of STWS currently involves treatment of the symptoms of each patient. [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]

Treatment of Relapsed/Refractory Hairy Cell Leukemia .................... ..................... ..................... ..................... ...................... ..................... ..................... ..................... .. 24 Diagnosis of Immune Pathophysiology [scribd.com]

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]