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List represents a sample of symptoms, diseases, and other queries. Updated weekly.

Scant Pubic Hair Pronounced Convex Arch of Eyebrows Characteristic Backward Head Tilt Normal Breast Development Small Atrophic Ovaries Estrogen and Progesterone Low Excess Gonadotropin Canities prematura Bicuspid Hypodontia Concave Nails (4th and 5th Digits) Variable Shortening of Metatarsals IV and V Variable Shortening of 4th and 5th Metacarpals Broad Short Thumbs Short 4th-5th Fingers Caused by Mutations in the Indian Hedgehog Gene Symphalangism Terminal Short Broad Proximal Phalanx of Thumb Thin Metacarpals with Broad Epiphyses Mutation in the Growth and Differentiation Factor 5 Gene Mutation in the BMPR1B Gene Syndactyly 2/3 Medially Deviated Second Toe Short, Broad Laterally Deviated Halluces Absent or Hypoplastic Middle Phalanx of 2nd Finger Variable Fifth Finger Clinodactyly Short Index Finger Delayed Fusion of Bipartite Calcanei Abnormal Tarsals Single Interphalangeal Joint Finger Mobility Decreased Aplastic or Hypoplastic Fingernails Brachydactyly Type E1 'Chess Pawn' Distal Phalanges Aplasia of the Middle Phalanges of the Fingers Ovoid Pelvis Short Thin Fibulae Lateral Bowing Distal Tibiae Lateral Bowing Proximal Femur Short, Broad, Radially Bowed Ulnae Mesomelia Prominent Lobules Glomerulocystic Dysplasia Hemangiomatous Branchial Clefts Subcutaneous Scalp Cysts Mastoid Hypoplasia with Absence of Air Cells Incomplete or Complete Cleft Lip Pseudocleft Divided Nasal Tip Combined Hamartoma of the Retina and Retinal Pigment Epithelium Cyst of Iris Pigment Epithelium Orbital Dermoid Cyst Supraauricular Sinus Postauricular Pit Postnatal Growth Deficiency (50%) Prenatal Growth Deficiency Branchial Cleft, Fistulas or Cysts - Usually Bilateral Renal Dysplasia/Aplasia Bundle Branch Block See also Adult-Onset Form Many Patients Die by 1-3 Years of Age No Evidence of Intrauterine or Perinatal Infection Poorly Developed Body Habitus Severe Spasticity Majority Die in Neonatal Period Secondary to Respiratory Insufficiency Mutations in the SRY-Box 9 Gene Cutaneous Dimpling Over Bowed Tibia Anterior Bowing of Tibia Short Phalanges - Both Hands and Feet Relatively Wide Pelvic Outlet Non Mineralized Thoracic Pedicles Hypoplastic Poorly Ossified Cervical Vertebrae Enlarged and Elongated Skull Flat Small Face Failure to Thrive in Survivors Birth Length: 35-49 cm Prenatal-Onset Short-Limb Dwarfism Absent Olfactory Tract or Bulbs Cutaneous Syndactyly of Digits Mild Neck Webbing Reported Cases All Sporadic Flat Supraorbital Ridges Absent / Hypoplastic Corpus Callosum Adult Onset Mutation in the SDHB Gene Urine Catecholamines Increased - with Pheochromocytoma Extraadrenal Pheochromocytomas (48%) Adrenal Pheochromocytomas Paragangliomas - Head and Neck Multiple Tumors in 28% of Patients Anal Atresia with Fistula Normal in Majority of Cases Coarse Blonde Hair Numerous Aberrant Oral Frenula Lobule Creases Corrected by Bone Marrow Transplantation Caused by Mutations in the Beta-2 Integrin Gene Leukocyte Function-Associated Antigen 1 Glycoprotein Reduced Associated with Malignant Hyperthermia (MHS) Autosomal Recessive Inheritance Reported Nemaline Rods May Be Observed