Schwartz-Jampel syndrome, Type 1 (SJS1)

What is Schwartz-Jampel syndrome, Type 1?

It is a rare genetic syndrome that affects mainly the skeletal muscles, with symptoms that are usually first identified in late infancy or early childhood.

There are 85 cases reported of the syndrome so far.

This syndrome is also known as:
Chondrodystrophic Myotonia; Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities; Schwartz-Jampel Syndrome; SJS; Schwartz-Jampel-Aberfeld Syndrome; SJA Syndrome

What gene changes cause Schwartz-Jampel syndrome, Type 1?

It is believed that the syndrome is caused by changes of a gene that encodes perlecan on the short arm of chromosome 1, this is the HSPG2 gene.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Schwartz-Jampel syndrome, Type 1?

  • Symptoms may vary in affected individuals but the main symptoms of the syndrome mainly affect the skeletal muscle, bone, and cartilage. These include muscle weakness, stiffness, and joint contractures (where the joints are permanently bent or straightened). Very small skeletal muscles are also common with the syndrome.
  • Eye anomalies and abnormalities are also common with the condition.
  • Growth delay is also associated with the syndrome.
  • Developmental delays are common, especially in the toddler years. These delays mainly affect the development of gross motor skills: crawling, walking, and running.
  • Unique facial features of the syndrome include a very small mouth and chin, low-set ears, a flat face, and mask-like facial expressions that seem fixed.

Possible clinical traits/features:
Cognitive impairment, Hip contracture, High pitched voice, Prominent nasal bridge, Hyporeflexia, Visual impairment, Kyphosis, Hypertrichosis, Hypertonia, Hypertelorism, Hyperlordosis, Short stature, Genu valgum, Flexion contracture of toe, Gait disturbance, Generalized hirsutism, Full cheeks, Arthrogryposis multiplex congenita, Decreased body weight, Microcornea, Coxa vara, Coxa valga, Coronal cleft vertebrae, EMG abnormality, Ectopia lentis, Congenital hip dislocation, Sprengel anomaly, Distichiasis, Delayed skeletal maturation, Myotonia, Malar flattening, Limitation of joint mobility, Decreased testicular size, Wrist flexion contracture, Feeding difficulties in infancy, Everted lower lip vermilion, Elbow dislocation, Anterior bowing of long bones, Skeletal muscle atrophy, Polyhydramnios, Cleft palate, Cataract, Attention deficit hyperactivity disorder, Blepharophimosis, Aplasia/Hypoplasia affecting the eye, Apnea, Abnormality of the ribs, Abnormality of the pharynx, Abnormality of the metaphysis.

How is Schwartz-Jampel syndrome, Type 1 diagnosed?

To find out if someone has a diagnosis of Schwartz-Jampel syndrome, Type 1, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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