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Symptoms May Be Aggravated by Acute Illness Mutation in the HADHA Gene Low Output Cardiomyopathy Acylcarnitines Increased Episodic Rhabdomyolysis Slowly Progressive Limb Girdle Myopathy Sensorimotor Axonopathy Caused by Mutation in the Plakophilin 2 Gene (PKP2) Hip Replacement in Early Adulthood Onset of Joint Pain in Childhood Hypoplastic or Dysplastic Toes (3rd-5th) Osteochondromatosis - Knee Elongated Vertebrae Progeroid Appearance Phytanic and Pristanic Acid Normal Distal Muscle Atrophy due to Neurologic Disease Does Not Lead to Hepatic Failure Pneumatocele Formation Cold Abscesses Lacking Erythema, Heat, and Swelling Resorption of Primary Tooth Roots Reduced Thickening of the Soft Tissue of the Nose Mild Prognathism Most Common Muscle Disease in Older Persons Congophilic Inclusions Muscle Biopsy Shows Inflammation with T Cells Muscle Atrophy Especially Quadriceps and Forearm Muscles During Pregnancy, Mostly in Third Trimester No Chronic or Permanent Liver Damage Eyelash Abnormality Nonspecific Granular Appearance of Retinal Pigment Epithelium Mild Transient Cherry Red Spot Anomalous Extraocular Muscles Iris Discoloration Triangular Face Later in Life Round Face Early in Life Corneal Sensitivity Impairment - Hypesthesia Partially Reduced Visually Acuity Alacrima Intrafamilial Variation Subluxation or Fusion of the Cervical Vertebrae Malformations of the Auditory Ossicles Allelic to Noonan Syndrome Mutation in the Lamin A-C Gene No Lipodystrophy in Face and Neck Tomaculae (Paranodal Myelin Swellings) Enlarged Peripheral Nerves Haploinsufficiency of RPS14 Contiguous Gene Deletion Syndrome of 5q31 Somatic Deletion of an Allele of the RPS14 Gene Medullary Blast Count <5% Hypolobulated Megakaryocytes in the Bone Marrow Platelet Count Normal or Increased High-Frequency Sensorineural Deafness Bilateral Sensorineural High Frequency Deafness Mutation in the FXYD2 Gene Renal Calcium Excretion Decreased Mutation in the MBD5 Gene Social Interactions Limited Non-Febrile Seizures Later Febrile Seizures in Infancy Patients Walk on Tips of Toes with Dorsal Foot Deviated Laterally Fibulo-Calcaneal Complex Tibia-Talus Complex Malformed Talus Malformed Calcaneus Normal Metacarpals Ulnar Deviation of Hands Tibial Fibula Synostoses Shortened Fibula Broad Severely Shortened Ulna Broad, Shortened Radius Approximately Half of Cases Are due to De Novo Deletions Caused by Deletion of Chromosome 9p Congenital Cardiac Malformations Brown or Blond Hair Small Palpebral Fissures Elevated Androstenedione Unilateral Renal Aplasia Absent or Rudimentary Uterus Caused by Contraction of a D4Z4 Repeat Array at Chromosome 4q35 Restrictive Pulmonary Dysfunction Wheelchair Dependency in 20% of Patients by Age 40 Foot Extensor Muscle Weakness (Later Onset) Abdominal Wall Muscle Weakness (Later Onset) Upper Arm and Pelvic Muscle Weakness and Atrophy Facial Muscle Weakness and Progressive Atrophy Macular Exudates and Hemorrhages Retinal Vasculopathy Facial Muscle Weakness and Atrophy Platyspondyly of Thoracic Vertebrae Congenital Joint Contracture (Elbows and Knees) Caused by Mutation in the Tropomyosin 2 Gene Abnormal Irregular Myofibrillar Network Mutation in the C10ORF2 Gene Curled Eyelashes High-Arched Dense Eyebrows Caused by Mutation in the KIAA1279 Gene See also More Severe Phenotype of Peeling Skin Syndrome Skin Peeling Exacerbated by Heat Friction and Humidity Caused by Mutation in the Transglutaminase 5 Gene