Question:
What are the symptoms of Schwartz Jampel syndrome type 1 ?

Answer:
What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem "fixed" in the same expression with puckered lips due to weakening and stiffening of the facial muscles. Additional facial features may include:   Blepharophimosis (narrowing of the eye opening) Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye) Blepharospasm (involuntary blinking or spasm of the eyelids) Hypertrichosis (excessive hair) of the eye lashes         Micrognathia (small lower jaw) Individuals with SJS1 usually have short stature. Other skeletal and joint findings may include: Shortened neck Pectus carinatum (outward bowing of the chest) Kyphosis (curving of the spine that causes a bowing or rounding of the back) Coxa valga (hip deformity involving an increased neck-shaft angle of the femur) Joint contractures  Osteoporosis Widening of the metaphysis (portion of the bone containing the growth plate) Delayed bone age Other less common symptoms include: a high pitched voice, bilateral carpel tunnel syndrome, and malignant hyperthermia. One study suggested that as many as 20% of individuals with SJS1 have an intellectual disability; however, most individuals with SJS1 have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwartz Jampel syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Cognitive impairment 90% EMG abnormality 90% Full cheeks 90% Gait disturbance 90% Genu valgum 90% Hypertonia 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Myotonia 90% Narrow mouth 90% Pes planus 90% Short stature 90% Skeletal dysplasia 90% Talipes 90% Trismus 90% Visual impairment 90% Abnormal vertebral ossification 50% Abnormality of the eyebrow 50% Abnormality of the pharynx 50% Blepharophimosis 50% Cataract 50% Hyperlordosis 50% Kyphosis 50% Malar flattening 50% Mask-like facies 50% Myopathy 50% Myopia 50% Overfolded helix 50% Pectus carinatum 50% Platyspondyly 50% Prominent nasal bridge 50% Ptosis 50% Reduced bone mineral density 50% Scoliosis 50% Short neck 50% Skeletal muscle hypertrophy 50% Spinal rigidity 50% Strabismus 50% Abnormality of immune system physiology 7.5% Abnormality of the ribs 7.5% Abnormality of the ureter 7.5% Abnormally straight spine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Apnea 7.5% Arrhythmia 7.5% Attention deficit hyperactivity disorder 7.5% Cleft palate 7.5% Decreased body weight 7.5% Delayed skeletal maturation 7.5% Distichiasis 7.5% Ectopia lentis 7.5% Elbow dislocation 7.5% Feeding difficulties in infancy 7.5% Hypertelorism 7.5% Hypertrichosis 7.5% Increased bone mineral density 7.5% Laryngomalacia 7.5% Long philtrum 7.5% Low anterior hairline 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Microcornea 7.5% Muscle weakness 7.5% Myalgia 7.5% Nephrolithiasis 7.5% Neurological speech impairment 7.5% Odontogenic neoplasm 7.5% Pectus excavatum 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Protrusio acetabuli 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Sprengel anomaly 7.5% Testicular torsion 7.5% Umbilical hernia 7.5% Wormian bones 7.5% Abnormality of femoral epiphysis - Anterior bowing of long bones - Autosomal recessive inheritance - Congenital hip dislocation - Coronal cleft vertebrae - Coxa valga - Coxa vara - Decreased testicular size - Flat face - Flexion contracture of toe - Generalized hirsutism - High pitched voice - Hip contracture - Hyporeflexia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Long eyelashes in irregular rows - Low-set ears - Lumbar hyperlordosis - Metaphyseal widening - Osteoporosis - Pursed lips - Shoulder flexion contracture - Talipes equinovarus - Weak voice - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.