Synonym(s): - Aberfeld syndrome - Burton disease - 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
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Diseases of the nervous system - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
HSPG2	P98160	142461

- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal / absent ossification
- Arthrogryposis
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Broad cheeks / cherub-like / cherubin face
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Flat foot
- Genu valgum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Limited opening of the mouth
- Low set ears / posteriorly rotated ears
- Metaphyseal anomaly
- Microstomia / little mouth
- Mild visual loss / impaired visual acuity
- Myotonia
- Protruding lips
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Talipes-valgus

- Abnormal cry / voice / phonation disorder / nasal speech
- Anomaly of the pharynx / pharyngeal anomaly
- Areflexia / hyporeflexia
- Blepharophimosis / short palpebral fissures
- Cataract / lens opacification
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Expressionless face / amimia
- Eyebrows anomalies
- Flat face
- Folded helix
- High nasal bridge
- High vaulted / narrow palate
- Kyphosis
- Lack / delayed ossification of spine / vertebrae
- Lordosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypertrophy
- Myopathy
- Myopia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pectus carinatum
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Ptosis
- Rigid spine
- Scoliosis
- Short neck
- Strabismus / squint

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Apnea / sleep apnea
- Cardiac rhythm disorder / arrhythmia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coxa profunda / acetabular protrusion
- Death in infancy
- Delayed bone age
- Dental cysts / tumors
- Distichiasis / double row of lashes
- Dystonia / torticollis / writer's cramp / blepharospasms
- Elbow dislocation
- Elocution disorders / dysarthria / dysphonia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fetal immobility / abnormal fetal movements
- Funicular / testicular torsion / absent gubernaculum testis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hirsutism / hypertrichosis / Increased body hair
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Laryngomalacia
- Lens dislocation / luxation / subluxation / ectopia lentis
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low hair line-front
- Malignant hyperthermia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Microcornea
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Osteosclerosis / osteopetrosis / bone condensation
- Pectus excavatum
- Polyhydramnios
- Pulmonary hypertension
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib structure anomalies
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Straight spine
- Talipes-varus / metatarsal varus
- Umbilical hernia
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wormian bones