Mucopolysaccharidosis, MPS-IV-B
- Synonyms
- MPS 4B; MPS IVB; Morquio syndrome B; Mucopolysaccharidosis Type IVB; Mucopolysaccharidosis type 4B; Mucopolysaccharidosis type IV B; Mucopolysaccharidosis type IVB (Morquio)
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Debra S Regier
- Cynthia J Tifft
- Caroline E Rothermel
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (98 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Grayish enamel
Grayish enamel
- MedGen UID: 344367
- Concept ID: C1854783
- Finding: Finding
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Wide mouth
Wide mouth
- MedGen UID: 44238
- Concept ID: C0024433
- Finding: Congenital Abnormality
Abnormality of head or neck
- Widely spaced teeth
Widely spaced teeth
- MedGen UID: 337093
- Concept ID: C1844813
- Finding: Finding
Abnormality of head or neck
- Carious teeth
- Abnormality of limbs
- Bilateral talipes equinovarus
Bilateral talipes equinovarus
- MedGen UID: 332956
- Concept ID: C1837835
- Finding: Congenital Abnormality
Abnormality of limbs
- Coxa valga
Coxa valga
- MedGen UID: 116080
- Concept ID: C0239137
- Finding: Finding
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pointed proximal second through fifth metacarpals
Pointed proximal second through fifth metacarpals
- MedGen UID: 340712
- Concept ID: C1854787
- Finding: Finding
Abnormality of limbs
- Ulnar deviation of the wrist
Ulnar deviation of the wrist
- MedGen UID: 115906
- Concept ID: C0231678
- Finding: Sign or Symptom
Abnormality of limbs
- Bilateral talipes equinovarus
- Abnormality of metabolism/homeostasis
- Decreased beta-galactosidase activity
Decreased beta-galactosidase activity
- MedGen UID: 383939
- Concept ID: C1856559
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased beta-galactosidase activity
- Abnormality of the cardiovascular system
- Aortic valve stenosis
Aortic valve stenosis
- MedGen UID: 1621
- Concept ID: C0003507
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Intimal thickening in the coronary arteries
Intimal thickening in the coronary arteries
- MedGen UID: 409636
- Concept ID: C1968633
- Finding: Finding
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic valve stenosis
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the eye
- Corneal opacity
Corneal opacity
- MedGen UID: 40485
- Concept ID: C0010038
- 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
- Corneal opacity
- Abnormality of the genitourinary system
- Chondroitin sulfate excretion in urine
Chondroitin sulfate excretion in urine
- MedGen UID: 868657
- Concept ID: C4023059
- Finding: Finding
Abnormality of the genitourinary system
- Keratan sulfate excretion in urine
Keratan sulfate excretion in urine
- MedGen UID: 868658
- Concept ID: C4023060
- Finding: Laboratory or Test Result
Abnormality of the genitourinary system
- Chondroitin sulfate excretion in urine
- Abnormality of the musculoskeletal system
- Cervical subluxation
Cervical subluxation
- MedGen UID: 375973
- Concept ID: C1846798
- Finding: Finding
Abnormality of the musculoskeletal system
- Constricted iliac wing
Constricted iliac wing
- MedGen UID: 340710
- Concept ID: C1854785
- Finding: Finding
Abnormality of the musculoskeletal system
- Developmental dysplasia of the hip
Developmental dysplasia of the hip
- MedGen UID: 1640560
- Concept ID: C4551649
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Disproportionate short-trunk short stature
Disproportionate short-trunk short stature
- MedGen UID: 337580
- Concept ID: C1846435
- Finding: Finding
Abnormality of the musculoskeletal system
- Epiphyseal deformities of tubular bones
Epiphyseal deformities of tubular bones
- MedGen UID: 340711
- Concept ID: C1854786
- Finding: Finding
Abnormality of the musculoskeletal system
- Flaring of rib cage
Flaring of rib cage
- MedGen UID: 381496
- Concept ID: C1854780
- Finding: Finding
Abnormality of the musculoskeletal system
- Hurler syndrome
Hurler syndrome
- MedGen UID: 39698
- Concept ID: C0086795
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hyperlordosis
Hyperlordosis
- MedGen UID: 9805
- Concept ID: C0024003
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis
- MedGen UID: 374176
- Concept ID: C1839254
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint stiffness
Joint stiffness
- MedGen UID: 56403
- Concept ID: C0162298
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal widening
Metaphyseal widening
- MedGen UID: 341364
- Concept ID: C1849039
- Finding: Finding
Abnormality of the musculoskeletal system
- Odontoid hypoplasia
Odontoid hypoplasia
- MedGen UID: 339524
- Concept ID: C1846439
- 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
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Prominent sternum
Prominent sternum
- MedGen UID: 337578
- Concept ID: C1846433
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Cervical subluxation
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cervical myelopathy
Cervical myelopathy
- MedGen UID: 57691
- Concept ID: C0149645
- Finding: Disease or Syndrome
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
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Cerebellar ataxia
- Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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