Aberfeld syndrome

Aberfeld syndrome

A rare, genetic neuromuscular disease characterized by

  • permanent myotonia
  • mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin)
  • chondrodysplasia (variably manifesting with short stature
  • pectus carinatum
  • kyphoscoliosis
  • bowing of long bones
  • epiphyseal, metaphyseal, and hip dysplasia


  • Aberfeld syndrome
  • Burton skeletal dysplasia
  • Burton syndrome
  • Catel-Hempel syndrome
  • Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
  • Myotonic chondrodystrophy
  • Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
  • Osteochondromuscular dystrophy
  • SJS
  • SJS1
  • Schwartz-Jampel syndrome type 1
  • Schwartz-Jampel-Aberfeld syndrome


How common is Aberfeld syndrome

<1 / 1000000

Approximately, 130 cases have been described in the literature to date.


Autosomal recessive 

What causes this condition?

Loss of function mutations in HSPG2 (1p36) are causative. 

HSPG2 encodes perlecan, a major component of the cellular matrix that plays an important role in maintaining cartilaginous tissue integrity and regulating muscle excitability.

The exact pathogenesis is unknown.

What are the Symptoms of Aberfeld syndrome?

  • Presentation is typically by 1 year to 2 years of age, but may occur earlier, with myotonia, maske-like facies, short stature, non-progressive muscle weakness, muscle hypertrophy, progressive restriction of range of motion and paucity of subcutaneous tissue.
  • Facial features consist of blepharospasm, progressive blepharophimosis, pursed lips and a puckered chin.
  • Micrognathia, low-set ears with folded helices and dystopia canthorum have also been reported.
  • The myotonia is characterized by continuous muscle activity recorded on electroneuromyography.
  • Limited joint mobility leads to an unsteady gait. Joint stiffness is progressive, reaching its peak during adolescence
  • The severity of chondrodysplasia is variable and may consist of flattening of the vertebral bodies, hip dysplasia, metaphyseal widening, slender diaphyses, kypho-scoliosis, multiple joint contractures and bowing of long bones.
  • Rarely, myopia, inguinal and umbilical hernias and micro-orchidism have been reported.

Very Common Symptoms

  • Abnormality of epiphysis morphology
  • Abnormality of the metaphysis
  • Arthrogryposis multiplex congenita
  • Bowing of the long bones
  • EMG abnormality
  • Elevated aldolase level 
  • Elevated circulating creatine kinase concentration
  • Everted lower lip vermilion
  • Full cheeks
  • Gait disturbance
  • Genu valgum 
  • Hip dysplasia 
  • Hypertonia
  • Intellectual disability
  • Joint stiffness
  • Low-set, posteriorly rotated ears
  • Metatarsus valgus
  • Micromelia
  • Myotonia
  • Narrow mouth
  • Pes planus 
  • Pursed lips
  • Short stature 
  • Skeletal dysplasia
  • Trismus 
  • Visual impairment

Common Symptoms

  • Abnormal eyebrow morphology
  • Abnormality of the pharynx
  • Abnormally ossified vertebrae
  • Blepharophimosis
  • Cataract
  • Coxa valga
  • Coxa vara
  • Flat face 
  • Flexion contracture of toe 
  • High palate 
  • High pitched voice 
  • Hip contracture
  • Hyperlordosis
  • Hyporeflexia
  • Kyphosis 
  • Mask-like facies
  • Micrognathia 
  • Myopathy
  • Myopia
  • Osteoporosis
  • Overfolded helix
  • Pectus carinatum
  • Platyspondyly
  • Prominent nasal bridge
  • Ptosis 
  • Scoliosis
  • Short neck
  • Shoulder flexion contracture
  • Skeletal muscle hypertrophy
  • Spinal rigidity
  • Strabismus
  • Weak voice
  • Wrist flexion contracture 

Occasional Symptoms

  • Abnormality of immune system physiology 
  • Abnormality of the ribs 
  • Abnormality of the ureter
  • Abnormality of the urinary system 
  • Abnormally straight spine
  • Anxiety
  • Aplasia/Hypoplasia affecting the eye 
  • Apnea 
  • Arrhythmia 
  • Attention deficit hyperactivity disorder
  • Blepharospasm 
  • Cachexia 
  • Cleft palate 
  • Death in infancy
  • Decreased body weight
  • Decreased testicular size
  • Delayed skeletal maturation
  • Dental malocclusion 
  • Distichiasis 
  • Dysphonia 
  • Ectopia lentis 
  • Elbow dislocation
  • Feeding difficulties in infancy
  • Generalized hirsutism
  • Hypertelorism
  • Increased bone mineral density
  • Increased number of teeth
  • Inguinal hernia 
  • Irritability
  • Laryngomalacia
  • Long eyelashes in irregular rows
  • Long philtrum
  • Low anterior hairline
  • Malignant hyperthermia 
  • Microcephaly 
  • Microcornea
  • Muscle weakness 
  • Myalgia
  • Nephrolithiasis
  • Neurological speech impairment
  • Odontogenic neoplasm
  • Pectus excavatum
  • Polyhydramnios
  • Prenatal movement abnormality 
  • Protrusio acetabuli 
  • Pulmonary arterial hypertension
  • Respiratory insufficiency
  • Skeletal muscle atrophy
  • Sprengel anomaly
  • Talipes equinovarus 
  • Testicular torsion
  • Umbilical hernia
  • Wormian bones

How is this condition diagnosed?

Diagnosis is established by demonstration of both myotonia via electromyography and chondrodysplasia via radiographs.

Genetic testing may confirm diagnosis.

Differential diagnosis

Schwartz-Jampel syndrome (SJS) is non-allelic with Stuve-Wiedemann syndrome, a severe skeletal dysplasia that is typically fatal during the neonatal period and was formerly described as SJS type 2.

Other differential diagnosis should include Freeman Sheldon and Marden Walker syndrome and, in cases with minimal skeletal abnormalities, myotonic disorders ( including myotonia congenita, myotonia permamens, and myotonic dystrophy).

Genetic counseling

Transmission is autosomal recessive.

Genetic counseling should be offered to affected families, informing them that the risk of disease transmission is 25% where both parents are unaffected carriers.

How is this condition treated?

  • The management of patients with SJS is primarily supportive and best offered by a team comprising a neurologist, a geneticist, a physical therapist, an orthopedic surgeon, an ophthalmologist and a psychologist.
  • Medical treatment with muscle relaxants and antiepileptic drugs, such as carbamazepine, phenytoin, or procainamide, aimed to alleviate myotonia has limited usage, although early initiation of treatment may limit the extent of disability.
  • Physical therapy is important to prevent contracture formation and fixed skeletal deformity.
  • Botulinum toxin A injections for blepharospasm has been reported with limited and variable results
  • Rarely, surgical intervention is considered for blepharospasm including orbicularis oculi myectomy or levator aponeurosis resection improve functional and cosmetic outcome.
  • Malignant hyperthermia is a potentially lethal complication of anesthesia.

What is the Prognosis?

Progressively worsening blepharospasm is an important morbidity that can interfere with vision.

The disease appears to stabilize after adolescence and does not affect life span.


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