Disorders of Metabolism Kurt Hirschhorn M.D. Judith Willner M.D. Clinical Pearls (KH) (JW) Alkaptonuria Synonym Ochronosis Inheritance Autosomal recessive; homogentisate 1,2-dioxygenase (HGO) gene on 3q21-q23 Prenatal Diagnosis DNA analysis Incidence…
Disorders with Chromosome Abnormalities Kurt Hirschhorn M.D. Judith Willner M.D. Clinical Pearls (KH) (JW) Down Syndrome Synonym Trisomy 21 syndrome Inheritance Approximately 2% of cases secondary to an inherited translocation;…
Disorders of Hair and Nails David Whiting M.D. Bernice Krafchik M.D. Richard Scher M.D. Kurt Hirschhorn M.D. Judith Willner M.D. Clinical Pearls (DW) (BK) (RS) (KH) (JW) Menkes’ Syndrome Synonym…
Disorders with Immunodeficiency Moise Levy M.D. Clinical Pearls (ML) Wiskott-Aldrich Syndrome Inheritance X-linked recessive; Wiskott-Aldrich Syndrome (WAS) gene on Xp11 Prenatal Diagnosis DNA analysis Fetal blood sample in male fetus—abnormally…
Disorders with Photosensitivity Moise Levy M.D. Kurt Hirschhorn M.D. Judith Willner M.D. Leonard Milstone M.D. Clinical Pearls (ML) (KH) (JW) (LM) Bloom Syndrome Inheritance Autosomal recessive; RecQL3 helicase gene on…
Disorders of Porphyrin Metabolism Vincent DeLeo M.D. Clinical Pearls (VD) Porphyria Cutanea Tarda (PCT) Inheritance Autosomal dominant; Uroporphyrinogen (UROGEN) decarboxylase gene on 1p34—less common (20% of cases) Sporadic/acquired—more common Prenatal…
Epidermolysis Bullosa Juoni Uitto M.D., Ph.D. Clinical Pearls (JU) Epidermolysis Bullosa Simplex Inheritance Autosomal dominant; very few autosomal recessive kindreds; keratin 5 and 14 genes on 12q and 17q, respectively…
Disorders with Malignant Potential Lawrence Eichenfield M.D. Clinical Pearls (LE) Basal Cell Nevus Syndrome Synonym Nevoid basal cell carcinoma syndrome Gorlin syndrome Inheritance Autosomal dominant; PTCH1 (PATCHED1) gene on 9q22-31…
Disorders of Connective Tissue Juoni Uitto M.D., Ph.D. Ilona Frieden M.D. Kurt Hirschhorn M.D. Judith Willner M.D. Clinical Pearls (JU) (IF) (KH) (JW) Ehlers-Danlos Syndrome Inheritance Type Classical (I and…
Disorders of Vascularization Amy Paller M.D. Kurt Hirschhorn M.D. Judith Willner M.D. Ilona Frieden M.D. Clinical Pearls (AP) (KH) (JW) (IF) Sturge-Weber Syndrome Synonym Encephalotrigeminal angiomatosis Inheritance Sporadic Prenatal Diagnosis…
