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Small Ilia Craniosynostosis of Coronal Lambdoid and/or Metopic Sutures Thin, Long, Pointed Nose Plagiocephaly (Orbital Asymmetry) Long and Prominent Ear Crus High, Flat Forehead Laryngo-, Tracheo-, Bronchomalacia Brachymesophalangy of Hands and Feet Partial Syndactyly of Fingers and Toes Craniosynostosis - Coronal with or without Sagittal Suture Epiphyseal Stippling Is Gone by 8 Months of Age Dorsal Hand Wrinkling Small Vertebrae Dimpled Nasal Tip Blue Eyes Prenatal-Onset Mild to Moderate Growth Retardation Brachymelic Dwarfism (Upper Limbs Greater than Lower Limbs) Thick Straight Hair Curved Nails Short Distal Digit Pseudoclubbing Long, Bowed Fibulae Progressive Basilar Impression Sella Turcica Elongated Thickened Skull Vault Failure of Suture Ossification Round, Yellow-Brown DHA Crystals in Urine 2,8-Dihydroxyadenine Urinary Stones APRT Deficiency as Measured in Erythrocyte Lysate Treatment: PEG-ADA, Bone Marrow Transplantation, and/or Gene Therapy 85-90% with Manifestations in First Months of Life Late-Onset Combined Immunodeficiency with Allelic Variant Mutation in the Adenosine Deaminase Gene 2'-Deoxyadenosine Increased Adenosine Levels Elevated CD4+ : CD8+ Ratio Often Reversed IgG2 Subclass Absent IgM Levels Low or Absent IgA Low or Absent Erythrocyte Adenosine Deaminase Activity Reduced Thick Growth Arrest Lines Pelvic Dysplasia Absent Specific Antibody Response Absent or Small, Dysplastic Thymus Absent or Reduced CD3+ Cells Absent T Cells Frequent Fungal Viral and Opportunistic Infections Allelic Disorder to Split-Hand-Foot Malformation Type 4 Allelic to Rapp-Hodgkin Syndrome Allelic Disorder to Limb-Mammary Syndrome (LMS) Caused by Mutation in the Tumor Protein p73-Like Gene Premature Scalp Hair Loss Premature Loss of Secondary Teeth Alacrima/Hypolacrimation Atretic Lacrimal Punctum Lacrimal Gland Hypoplasia Mutation in the MITF Gene White Blonde Hair No Heterochromia Irides Bilateral Congenital Profound Sensorineural Hearing Loss Mutation in the G Protein Alpha Stimulating Polypeptide 1 Gene Short Metacarpals (Especially 4th and 5th) Variable Phenotypic Expression Fusion of the CYP11B1 Gene Hypertension - Suppressible by Glucocorticoid Treatment 18-Hydroxycortisol Increased 18-Oxocortisol Increased Potassium Normal or Decreased Alpha-2 Macroglobulin Levels Decreased Favorable Response to Flunarizine Onset before 18 Months of Age Upward Eye Deviation during Episodes Headache is Usually Not a Symptom Neurologic Regression after Prolonged Episodes Autonomic Involvement Affecting Limbs during Episodes Episodic Hemiplegia Neurofibrillary Tangles Composed of Disordered Microtubules Xerosis (Buttocks and Extensor Surfaces of Extremities) Delayed Second Dentition Yellow-Brown Discoloration of the Teeth Hypocalicifed Hypoplastic Enamel Icelandic Families Death before Age 40 Onset 3rd to 4th Decade of Life Mutations in the Cystatin C Gene Cerebrospinal Fluid Cystatin C Decreased Premature Stroke Mutation in the Transthyretin Gene Amyloid Deposition in the Vitreous Humor Amyloid Deposition in Leptomeningeal Vessels, Brain Stem, Spinal Cord Approximately 10% of ALS Cases Are Familial Susceptibility Conferred by Mutation in the Dynactin 1 Gene Susceptibility Conferred by Mutation in the Peripherin Gene Susceptibility Conferred by Mutation in the NEFH Gene Reduced Cytosolic Superoxide Dismutase 1 (SOD1) Pseudobulbar Palsy - e.g. Involuntary Weeping or Laughter Upper and Lower Neuron Manifestations Ocular Motility Spared 2-3% due to Imprinting Defects 2% due to Paternal Uniparental Disomy of 15q11.2-q13