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Disease characteristics

Excerpted from the GeneReview: Mucolipidosis II
Mucolipidosis II (ML II, I-cell disease) is a slowly progressive inborn error of metabolism with clinical onset at birth and fatal outcome most often in early childhood. Postnatal growth is limited and often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Already in infancy skeletal radiographs reveal dysostosis multiplex. All children appear to have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death.

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Associated genes

Clinical features

  • Cardiomegaly
  • Umbilical hernia
  • Hirsutism
  • Splenomegaly
  • Palpebral edema
  • High forehead
  • Short stature
  • Thin skin
  • Lack of skin elasticity
  • Epicanthus
  • Neonatal hypotonia
  • Ovoid vertebral bodies
  • Flat acetabular roof
  • Recurrent otitis media
  • Narrow forehead
  • Talipes equinovarus
  • Large sella turcica
  • Kyphosis
  • Protuberant abdomen
  • Anteverted nares
  • Coarse facial features
  • Short long bones
  • Increased serum iduronate sulfatase activity
  • Progressive alveolar ridge hypertropy
  • Lower thoracic interpediculate narrowness
  • Beaking of vertebral bodies T12-L3
  • Varus deformity of humeral neck
  • Bullet-shaped phalanges of the hand
  • Metaphyseal widening
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Thickened calvaria
  • Thoracolumbar kyphoscoliosis
  • Long philtrum
  • Flared iliac wings
  • Recurrent respiratory infections
  • Carpal bone hypoplasia
  • Osteopenia
  • Failure to thrive
  • Increased serum beta-hexosaminidase
  • Inguinal hernia
  • Macroglossia
  • Broad alveolar ridges
  • Megalocornea
  • Sparse eyebrow
  • Abnormality of the thorax
  • Hypoplastic scapulae
  • Cavernous hemangioma
  • Corneal dystrophy
  • Split hand
  • Diastasis recti
  • Abnormality of the rib cage
  • Hoarse voice
  • Congestive heart failure
  • Hypertrophic cardiomyopathy
  • Abnormality of the heart valves
  • Aortic regurgitation
  • Weight loss
  • Morphological abnormality of the central nervous system
  • Myelopathy
  • Hepatomegaly
  • Pathologic fracture
  • Hip dislocation
  • Recurrent bronchitis
  • Abnormality of the wrist
  • Deficiency of N-acetylglucosamine-1-phosphotransferase
  • Hypoplasia of the odontoid process
  • Atlantoaxial dislocation
  • Depressed nasal bridge
  • Recurrent pneumonia
  • Wide intermamillary distance
  • Mucopolysacchariduria
  • Severe postnatal growth retardation
  • Hernia
  • Corneal erosion
  • Severe global developmental delay
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