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35901 to 36000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Skin Nodules - Fingers Elbows Nose Ears
Defective, Irregular Tarsal Ossification
Limited Feet Motion
Hand Motion Limited
Anterior Stromal Haziness
Anterior Cortical Cataracts
Corneal Dystrophy
Recurrent Skin Ulcerations - Face Trunk Limbs
Flexion Contractures (Fingers)
Fistulous Osteolysis around Joints
Arthralgia - Hands, Feet, Ankles and Knees
Limited Mobility of Proximal Interphalangeal Joint
Stroke-Like Episodes
Widened Metopic Suture
Broad Tip
Infra Orbital Crease
Birth Weight 50-97th Percentile
Characteristic Hoarse Voice
Short Finger with Ulnar Deviation
Ossified Pinnae
Neonatal Cystic Lesions of the Pinnae
Adult Height: 100-140 cm
Normal Phytanic Acid
Stippled Calcification of Proximal Humeral Epiphyses
Episodic Hypothermia In Infants
Hypoglycemia Episodic in Infants
Mutation in the Dopamine Beta Hydroxylase Gene
Fainting Spells
Severe Recurrent Orthostatic Hypotension
Plasma DBH Activity Undetectable
Dopamine Release upon Stimulation of Sympathetic Fibers
Dihydroxyphenylacetic Acid Increased
Epinephrine Undetectable in Plasma Urine CSF
Plasma, Urine and Cerebrospinal Fluid Norepinephrine Undetectable
Delayed Neonatal Eye Opening (up to 2 Weeks)
Impaired Ejaculation due to Decreased Sympathetic Activity
Seizures May Occur during Hypotensive Episodes
Eczema - Face and Flexural Areas
Two-Three Toe Syndactyly
Sparse Lateral Eyebrows
Elongation of Face with Age
Average Birth Head Circumference 30.6 cm
Frequent Vomiting
Average Birth Weight 2.3 kg
Average Birth Length 44 cm
Allelic with Smith-McCort Dysplasia
Mutations in the FLJ90130 Gene
Multicentric Ossification of Proximal Humeral Epiphyses
Wide Symphysis Pubis
Wide Pubic Ramus
Wide Sacroiliac Joint
Irregular Lacy Iliac Crests
C1-C2 Dislocation
Hyperpneumatization of Paranasal Sinuses
Calvarial Thickening - Parietal and Occipital Regions
Adult Height 98-127 cm
Flared Acromion
Costochondral Junction Enlargement
Severe Psychomotor Retardation (IQ: 35-65)
Prevalence in Persons of Ashkenazi Jewish Descent Increased
Postural Hypotension without Compensatory Tachycardia
Breath Holding Episodes
Episodic Hyperhidrosis
Erythematous Skin Blotching
Sensitivity to Adrenergic and Cholinergic Agents Increased
Lingual Fungiform Papillae Decreased or Absent
Pupillary Contraction in Response to Methacholine
Vomiting Crises
Poor Oral Coordination
Few Neurons in Dorsal Root Ganglia
Neurons in Spinal Sympathetic Ganglia Decreased
Large Myelinated Fibers Decreased
Decreased Small Myelinated and Unmyelinated Fibers
Hypoplastic Sural Nerve
Intellect Is Unimpaired
Prominent Autonomic Manifestations
Vibratory Loss Occurs Later
Decreased Pain and Temperature Perception
Postnatal Cataracts
Disturbed Equilibrium
Red-Violet Macular Atrophy
Sclerotic Carpals
Short Thick Diaphyses
Radiolucent Metaphyses
Progressive Bowing of Long Bones
Epimetaphyseal Sclerosis
Pronounced Anterior Notches
Intervertebral Spaces Widened
Periorbital Sclerosis
Poorly Calcified Teeth
Narrow Chin
Short, Thick Sternum
Sclerotic Clavicles
Short, Wide Ribs
Sclerotic Ribs
See Also Dyssegmental Dysplasia Type Silverman-Handmaker
Lethal in 40% of Patients
Short, Broad Tubular Bones
Dumbbell Femurs
Microcamptomelia