Stüve-Wiedemann syndrome 1
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (9 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Low hanging columella
Low hanging columella
- MedGen UID: 344656
- Concept ID: C1856119
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Pursed lips
Pursed lips
- MedGen UID: 371254
- Concept ID: C1832130
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Short palpebral fissure
Short palpebral fissure
- MedGen UID: 98067
- Concept ID: C0423112
- Finding: Finding
Abnormality of head or neck
- Smooth tongue
Smooth tongue
- MedGen UID: 510156
- Concept ID: C0155964
- Finding: Disease or Syndrome
Abnormality of head or neck
- Square face
Square face
- MedGen UID: 371253
- Concept ID: C1832127
- Finding: Finding
Abnormality of head or neck
- Thin vermilion border
Thin vermilion border
- MedGen UID: 108294
- Concept ID: C0578038
- Finding: Finding
Abnormality of head or neck
- Wide nasal base
Wide nasal base
- MedGen UID: 341506
- Concept ID: C1849667
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Absent patellar reflexes
Absent patellar reflexes
- MedGen UID: 643630
- Concept ID: C0558844
- Finding: Finding
Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Flexion contracture of toe
Flexion contracture of toe
- MedGen UID: 237248
- Concept ID: C1406835
- Finding: Finding
Abnormality of limbs
- Knee flexion contracture
Knee flexion contracture
- MedGen UID: 98042
- Concept ID: C0409355
- Finding: Finding
Abnormality of limbs
- Short phalanx of finger
Short phalanx of finger
- MedGen UID: 163753
- Concept ID: C0877165
- Finding: Finding
Abnormality of limbs
- Short tibia
Short tibia
- MedGen UID: 338005
- Concept ID: C1850259
- Finding: Finding
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Talipes
Talipes
- MedGen UID: 220976
- Concept ID: C1301937
- Finding: Congenital Abnormality
Abnormality of limbs
- Talipes valgus
Talipes valgus
- MedGen UID: 57757
- Concept ID: C0152236
- Finding: Congenital Abnormality
Abnormality of limbs
- Thumbs, congenital Clasped
Thumbs, congenital Clasped
- MedGen UID: 98140
- Concept ID: C0431886
- Finding: Congenital Abnormality
Abnormality of limbs
- Tibial bowing
Tibial bowing
- MedGen UID: 332360
- Concept ID: C1837081
- Finding: Finding
Abnormality of limbs
- Ulnar deviation of finger
Ulnar deviation of finger
- MedGen UID: 68543
- Concept ID: C0231679
- Finding: Finding
Abnormality of limbs
- Absent patellar reflexes
- Abnormality of metabolism/homeostasis
- Abnormality of temperature regulation
Abnormality of temperature regulation
- MedGen UID: 330395
- Concept ID: C1832160
- Finding: Finding
Abnormality of metabolism/homeostasis
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Abnormality of temperature regulation
- Abnormality of prenatal development or birth
- Oligohydramnios
Oligohydramnios
- MedGen UID: 86974
- Concept ID: C0079924
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Oligohydramnios
- Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
Pulmonary arterial hypertension
- MedGen UID: 425404
- Concept ID: C2973725
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial medial hypertrophy
Pulmonary arterial medial hypertrophy
- MedGen UID: 306155
- Concept ID: C1504382
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
- Abnormality of the ear
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Abnormality of the ear
- Low-set ears
- Abnormality of the eye
- Absent corneal reflex
Absent corneal reflex
- MedGen UID: 78835
- Concept ID: C0278211
- Finding: Finding
Abnormality of the eye
- Decreased lacrimation
Decreased lacrimation
- MedGen UID: 116004
- Concept ID: C0235857
- Finding: Finding
Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Opacification of the corneal stroma
Opacification of the corneal stroma
- MedGen UID: 602191
- Concept ID: C0423250
- Finding: Finding
Abnormality of the eye
- Absent corneal reflex
- Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
- Abnormality of the integument
- Blotching pigmentation of the skin
Blotching pigmentation of the skin
- MedGen UID: 870386
- Concept ID: C4024831
- Finding: Finding
Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Milia
Milia
- MedGen UID: 87528
- Concept ID: C0345996
- Finding: Anatomical Abnormality
Abnormality of the integument
- Premature skin wrinkling
Premature skin wrinkling
- MedGen UID: 19996
- Concept ID: C0037301
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Thin skin
Thin skin
- MedGen UID: 140848
- Concept ID: C0423757
- Finding: Finding
Abnormality of the integument
- Blotching pigmentation of the skin
- Abnormality of the musculoskeletal system
- Abnormal metaphyseal trabeculation
Abnormal metaphyseal trabeculation
- MedGen UID: 387751
- Concept ID: C1857139
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the long bones
Bowing of the long bones
- MedGen UID: 340849
- Concept ID: C1855340
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Broad ischia
Broad ischia
- MedGen UID: 324622
- Concept ID: C1836868
- Finding: Finding
Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Contracture of the proximal interphalangeal joint of the 5th finger
Contracture of the proximal interphalangeal joint of the 5th finger
- MedGen UID: 767526
- Concept ID: C3554612
- Finding: Finding
Abnormality of the musculoskeletal system
- Diaphyseal undertubulation
Diaphyseal undertubulation
- MedGen UID: 331984
- Concept ID: C1835473
- Finding: Finding
Abnormality of the musculoskeletal system
- Elbow flexion contracture
Elbow flexion contracture
- MedGen UID: 98367
- Concept ID: C0409338
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Enlarged joints
Enlarged joints
- MedGen UID: 347068
- Concept ID: C1859111
- Finding: Finding
Abnormality of the musculoskeletal system
- Femoral bowing
Femoral bowing
- MedGen UID: 347888
- Concept ID: C1859461
- Finding: Finding
Abnormality of the musculoskeletal system
- Flared metaphysis
Flared metaphysis
- MedGen UID: 337976
- Concept ID: C1850135
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplastic iliac body
Hypoplastic iliac body
- MedGen UID: 376500
- Concept ID: C1849034
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal rarefaction
Metaphyseal rarefaction
- MedGen UID: 371259
- Concept ID: C1832146
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Myotonia
Myotonia
- MedGen UID: 675119
- Concept ID: C0700153
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Ovoid vertebral bodies
Ovoid vertebral bodies
- MedGen UID: 344549
- Concept ID: C1855665
- Finding: Finding
Abnormality of the musculoskeletal system
- Pathologic fracture
Pathologic fracture
- MedGen UID: 42095
- Concept ID: C0016663
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Short long bone
Short long bone
- MedGen UID: 344385
- Concept ID: C1854912
- Finding: Finding
Abnormality of the musculoskeletal system
- Thickened cortex of long bones
Thickened cortex of long bones
- MedGen UID: 333557
- Concept ID: C1840418
- Finding: Finding
Abnormality of the musculoskeletal system
- Thin ribs
Thin ribs
- MedGen UID: 98095
- Concept ID: C0426818
- Finding: Finding
Abnormality of the musculoskeletal system
- Abnormal metaphyseal trabeculation
- Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
Abnormal autonomic nervous system physiology
- MedGen UID: 8511
- Concept ID: C0013363
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Impaired pain sensation
Impaired pain sensation
- MedGen UID: 373348
- Concept ID: C1837522
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Apnea
- Abnormality of the voice
- Hoarse voice
Hoarse voice
- MedGen UID: 5602
- Concept ID: C0019825
- Finding: Sign or Symptom
Abnormality of the voice
- Hypernasal speech
Hypernasal speech
- MedGen UID: 107884
- Concept ID: C0566620
- Finding: Finding
Abnormality of the voice
- Hoarse voice
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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