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Mutation in the WNT10A Gene Longitudinal Depressions on Microscopic Examination Dystrophic Fingernails Mild Acanthosis in Epidermis Hypergranulosis in Epidermis Hyperkeratosis in Epidermis Orthokeratosis in Epidermis Keratoderma of Palms and Soles Severe Hypodontia Reduced, Filiform Papillae Fungiform Papillae Reduced PEO is Not Always Present Increased Prevalence in Individuals of Jewish-Iraqi Origin Neurologic Features Occur Later in Childhood Onset of Optic Atrophy in Infancy or Early Childhood Mutation in the OPA3 Gene Urine 3-Methylglutaconic Acid Increased Onset of Fractures in Infancy to Early Childhood Joint Laxity (Fingers and Wrist) Congenital Joint Contractures - Knee Ankle Hip Elbow See Pachyonychia Congenita Type 3 Hard, Thickened Nails (Pachyonychia) Recurrent Shedding of Nails Episodic Inflammatory Swelling of Nail Bed No Hyperhidrosis No Palmoplantar Hyperkeratosis Horny Papules (Face, Legs, Buttocks) Extrapyramidal Signs Show a Favorable Response to Levodopa Childhood Onset Reported in One Family Caused by Mutation in the F-Box Only Protein 7 Gene Upgaze Reduced Monotone Speech Spasticity Mainly in the Lower Limbs Allelic to Mevalonic Aciduria Foveolar Thickness Decreased Congenital Complete Achromatopsia Colorblindness Mutations in the PKHD1 Gene Flat Electroretinogram Thin Legs Aplastic Humeri Aplastic Hypoplastic Radius Absent Ulnae Anterior Rounding of Lumbar Vertebrae Long-Tented Upper Lip Birth Weight below 5th Percentile Birth Length below 5th Percentile Long, Thin Ribs Prominent Labia Minora Circumferential Penile Groove Cone-Shaped Epiphyses - Proximal and Middle Phalanges Sclerosing Glomerulonephropathy Often Death in Utero or Perinatal Period Mutation in the AGTR1 Gene Mutation in the Angiotensinogen Gene Severe Hypotension Neonatal Respiratory Failure due to Pulmonary Hypoplasia Pulmonary Hypoplasia Secondary to Oligohydramnios Hypoplastic Calvaria Underdeveloped Membranous Cranial Bones Fetal Anuria Severe Oligohydramnios Renal Arterial Walls Thickening Primitive Renal Tubules May Exist Absence of Differentiated Proximal Tubules Normal Development between Episodes Attacks Triggered by Catabolic Stress Such as Fever or Illness Caused by Mutation in the Lipin 1 Gene Episodic and Recurrent Rhabdomyolysis Renal Failure May Occur Allelic to Roberts Syndrome Allelic to Salla Disease See also Peeling Skin Syndrome, Acral Type Two Subtypes - Noninflammatory Type A and Inflammatory Type B Acral Form of Skin Peeling Limited to Hands and Feet Distal Oncholysis Cleavage at Junction of Stratum Corneum and Stratum Granulosum Vesicular Lesions Generalized Erythema - Inflammatory Type B Plasma Tryptophan Low Retinal Degeneration Not in All Cases Age at Onset: 5-19 Years Mutation in the Zinc Finger FYVE Domain Containing Protein 26 MRI Shows Brain White Matter Hyperintensities Proprioception in Lower Limbs Decreased Hypoplastic Epiphyses Posterior Scalloping Relative Increase in Anterior Vertebral Body Height Underdeveloped Dental Roots Bilateral Posterior Subcapsular Cataracts Short, Distally Wide Metacarpals Mutation in the NUP62 Gene Mutation in the FLNB Gene Bilateral Proximal Femoral Epiphyseal Dysplasia Prominent Heels Long, Slender Tubular Bones Fleshy Upturned Nose Full Eyebrows Relative Head Circumference Increased High Square Shoulders