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Anorectal Sinus Anterior Sacral Meningocele Paternal Age Effect Median Life Expectancy 13.4 Years Premature Coronary Artery Disease Postnatal-Onset Growth Retardation Neonatal Vitreous Hemorrhages Compound Heterozygosity Common Onset Usually before Age 10 Years Mutation in the Ferrochelatase Gene Ferrochelatase Activity Reduced Excess Protoporphyrin in Bile and Feces but Not in Urine Fluorescence of Red Blood Cells by UV Microscopy Mild Hypertriglyceridemia Autosomal Recessive Autosomal Dominant Caused by Mutations in Cartilage Oligomeric Matrix Protein Genu Valgum, Genu Varum and Genu Recurvatum Elbow and Hip Extension Limited Irregular Mushroomed Metaphyses Telescoping Fingers Round Ilium Irregular Acetabulum Anterior Flattening and-or Beaking of Vertebrae Adult Height: 82-130 cm Short Limb - Short Stature - Childhood Onset Peripheral Pulses Diminished or Absent Medial Calcification of Medium-Sized and Major Arteries Yellowish Lip - Mucosal Nodules Salmon Spots Peau D'Orange Retinal Changes Multiple Pterygia Genital Hypoplasia Usually Presents in Third to Fourth Decade Thrombosis in Situ Plexiform Vascular Lesions Arteries Show Intimal Fibrosis Arteries Show Medial Hypertrophy Arterial Vascular Wall Remodeling Pulmonary Vascular Resistance Increased Right Atrial Pressure Elevated Possibly Restrictive Pattern in Pulmonary Function Tests Episodic Loss of Vision Mutations in the PITX2 Gene Hypodontia - Maxillary Incisors Displaced Pupils Iris Dysplasia (Goniodysgenesis) Umbilical Defect (Redundant Periumbilical Skin) Mutations in the PMP22 Gene Foot Infections Leading to Amputation Possibly Onion Bulb Formations Upper Limb Action Tremor Truncating Mutations in CREBBP Found in 10% of Patients Keloid Formation in Surgical Scars Plantar Crease between First and Second Toe Broad Thumbs with Radial Angulation Risk of Tumor Formation Increased - Especially of the Head Small Opening of The Mouth Average Female Adult Height 147 cm Average Adult Height of Males 153 cm Severe Expressive Speech Delay Maternal Uniparental Disomy - UPD7 - Reported in Some Cases Chromosome Rearrangements Reported Mostly Sporadic Heterogeneity Syndactyly 2nd-3rd Toes Asymmetry of Arms and-or Legs Blue Sclera in Infancy Pseudohydrocephalic Appearance Partial or Total Asymmetry Lateral Asymmetry Average Female Adult Height 138 cm Average Adult Male Height 149.5 cm Possibly Growth Hormone Deficiency Prominent Elbows Extension of Elbows Limited Failure of Secondary Teeth Eruption See Also X-Linked EDMD Increased Risk of Sudden Cardiac Death Pelvic Muscle Involvement (Late Symptom) Proximal Limb-Girdle Muscle Weakness Distal Lower Limb Muscle Weakness and Atrophy Humeroperoneal Weakness and Atrophy Restricted Neck Movement due to Contractures Short 4th and 5th Toes Absent 3rd, 4th and 5th Ulnar Rays Hypoplastic, Absent or Deformed Radius Hypoplastic, Absent or Deformed Ulna Ectopic Upper Canines Scant Lateral Eyebrows Arched, Sparse Eyebrows Prominent Lateral Palatine Ridges Deep Tendon Reflexes Absent or Decreased Structural Brain Abnormalities Pain Sensitivity Decreased Variable Progression Later Onset Rarely Reported Onset Usually at Early Age Pes Cavus in Patients with Early Onset Upper Limbs May Show Mild Involvement