34701 to 34800 most common queries

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

• Scant Pubic and Axillary Hair
• 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