29401 to 29500 most common queries

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

• Variable Shortening of 4th and 5th Metacarpals
• Broad Short Thumbs
• 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
• 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
• Short, Broad, Radially Bowed Ulnae
• Prominent Lobules
• Glomerulocystic Dysplasia
• Hemangiomatous Branchial Clefts
• Subcutaneous Scalp Cysts
• Incomplete or Complete Cleft Lip
• Pseudocleft
• Divided Nasal Tip
• 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
• 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
• Reported Cases All Sporadic
• 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
• 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
• Autosomal Recessive Inheritance Reported
• Nemaline Rods May Be Observed
• Internal Nuclei in Skeletal Muscle Fibers Increased
• Changes in Sarcoplasmic Reticulum and T-Tubules
• Cores Contain Densely Packed Myofilaments
• Unilateral Centro-Temporal Spikes
• Earlier Onset Is Rare
• Late Adult-Onset
• Gaze-Evoked Horizontal Nystagmus
• Mild to Moderate Late Onset Sensorineural Hearing Loss
• Degeneration of Purkinje Cells in the Cerebellum
• Slightly Increased Risk for Malignancy
• Few Familial Cases Reported
• Mutation in the Nuclear Receptor Binding SET Domain Protein 1 Gene
• Sparse Hair in Frontoparietal Area
• Birth Length Often More Increased than Weight
• Mean Full Term Birth Weight: 3.9 kg
• Mean Female Adult Height 172.9 cm
• Mean Male Adult Height 184.3 cm
• Adult Height Often Normal
• Length ≥97th Percentile through Early Adolescence
• Mean Full Term Birth Length 55.2 cm
• Prominent Trigone and Occipital Horn
• Mental Retardation Likely due to Neonatal Hypoxia