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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