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]

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]

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]

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]

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]

[…] 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]

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]

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]

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]

[…] 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]

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 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]

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 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]

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]