Disease Comparison Results (show all mode) for Pseudohypoparathyroidism and Acrocallosal syndrome (ACS)

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Acrocallosal syndrome (ACS)

Found: 70 | Differences: 57

Pseudohypoparathyroidism

Found: 171 | Differences: 158

Pseudohypoparathyroidism and Acrocallosal syndrome (ACS) sharing 13 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Anteverted Nares deformity
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Prominent forehead/High forehead
Short Philtrum/Facies
Short upper lip
Blond hair patient
Curly Hair
Lax abdominal muscles
High arched palate
Bifid thumb deformity
Hypotonia
Tapered fingers
Mental Deficiency Child
Seizures
Macrocephaly/Large head
Megalocephaly
Postaxial polydactyly
Prominent /protruding Occiput
Nose short/upturned
Downward sloping eyes/Antimongoloid slant
Epicanthal folds
Eyelid Retraction
Proptosis,bilateral
Low set ears/congenital
Low set/odd position ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Diagnostic Test Results
Pathology
PATH/Brain corpus callosum lesion/defect
CT Scan
CT Scan/Head Brain/Corpus callosum hypoplasia/agenesis
Associated Diseases & Rule outs
Associated Disease & Complications
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital urinary tract malformations
Corpus callosum defect/agenesis
Ear deformities/congenital
Exophthalmos
Exotropia
Hypertelorism/Wide Spaced Eyes
Hypogonadism, male
Hypospadius anomaly
Inguinal Hernia
Limb deformities/anomalies
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Polydactyly/Supernumery digits
Secondary female hypogonadism
Umbilibal Anomalies
Umbilical hernia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Corpus callosum defect/agenesis
Pathophysiology
Pathophysiology/Secondary Testicular Failure
Pathophysiology/Corpus callosum defect
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Postaxial limb deficiency/phocomelia
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Synonym/Schinzel Syndrome 1
Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Numbness of face
Round face
Palpitations/Skipped beats
Subcutaneous hard bony nodules
Abdominal Pain
Tooth Enamel defects
Chvostek's sign
Cramping in Extremities
Hypertonia
Muscle twitches
Pain in Extremities/Melalgias
Peroneal sign/tetany
Short arms/legs
Twitchy/muscle spasms
Weak/Weak as a kitten (symptom)
Active reflexes
Fatigability
Headache
Hyperreflexia/DTRs increased
Mental Deficiency Child
Numbness/distal fingers and toes
Paresthesias
Seizures
Spasms in Both Legs
Amenorrhea
Amenorrhea, primary
Menstrual cramps
Shortness of breath/SOB
Dysmorphic dwarfism/short stature
Knuckle dimpling sign
Short fingers/toes (Brachydactyly)
Short Limbs Deformity
Thick/Wide body habitus
Stridor (Inspiratory noise)
Stridor infant Child
Chronic Fatigue
Dysmorphic appearance/face
Enervated/extreme acute fatigue
Fatigue
Fatigue Tiredness Exhaustion
Growth/development delay
Short stature
Short stature Child
Weakness
Weakness non-neuromuscular/systemic
Blurred Cloudy Vision
Dimming vision/acute
Eyelid Fasciculations
Loss eye brows
Photophobia/Light sensitive
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
Onset/Childhood
Onset/insidious
Demographics & Risk Factors
Established Disease Population
Patient/Mentally retarded
Population Group
Child
Population/Pediatrics population
Young Adult
Family History
Family history/Dwarfism
Family history/Endocrine disorder
Family history/Mental retardation
Family history/Skeletal malformations
Sex & Age Groups
Population/Adult/all
Population/Child
Population/Children/all
Population/Preschool child/boy
Population/Young adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Absent antibodies/Parathyroid hormone (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Male sex chromatin Female habitus (Lab)
Abnormal Lab Findings - Decreased
Calcium, serum (Lab)
URINE Calcium
URINE Phosphorus
Abnormal Lab Findings - Increased
Calcitonin plasma/serum (Lab)
Parathyroid hormone PTH (Lab)
Phosphate Serum (Lab)
TSH/Thyroid stimulating hormone (Lab)
URINE Cyclic adenosine monophosphate
Diagnostic Test Results
Other Tests & Procedures
TEST/Phosphate diuresis failure/parathyroid hormone injection
TEST/Urine cyclic AMP increase failure/Parathyroid admin
EKG (ECG)
EKG/Prolonged QT interval (ECG)
EKG/ST-T changes (ECG)
CT Scan
CT Scan/Head Calcified Basal ganglia
CT/Bone Mineral Density/Increased
X-RAY
Xray/Calcifications Subcutaneous
Xray/Subcutaneous ossification centers/calcification
Xray/Calcifications of soft tissue, multiple
Xray/Muscle calcification
Xray/Soft tissue calcification/muscle/subcutaneous
Xray/Basal ganglia calcification/Skull
Xray/Calcifications intracranial/brain/Skull
Xray/Multiple intracranial calcifications/Head
Xray/Calcification soft tissues
Xray/Cortical thickening skull
Xray/Demineralized bone extensive
Xray/Early closure epiphyses/long bones
Xray/Epiphysis irregular/damage/extensive
Xray/Hand short fourth metacarpal bone
Xray/Increased bone density
Xray/Long index fingers
Xray/Short metacarpal bones
Xray/Shortened long bone
Xray/Skull bones thickened
Xray/Subperiosteal bone resorption
Xray/Wide phalanges
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Hypercalcuria
Pituitary hypothyroidism
Pseudopseudohypoparathyroidism
Associated Disease & Complications - Causes
Calcium supplement medication/toxicity
Cataract
Convulsions (grand mal)
Diabetes mellitus
Exostosis
Hyperphosphatemia
Hypocalcemia
Hypoparathyroidism, primary
Infertility/sterility male
Infertility/sterility, female
Juvenile hypothyroidism
Kidney stone/Nephrolithiasis/Urolithiasis
Mental retardation
Metabolic Myopathy
Myopathy
Osteitis fibrosa cystica
Parkinsons disease
Pituitary hypothyroidism
Pseudohypoparathyroidim
Diabetes mellitus/non-insulin dep/type II
Hand anomalies
Metacarpal Anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Endocrine gland (category)
CLASS/Parathyroid gland disorder (ex)
Pathophysiology
Pathophysiology/Calcifying deposition disorder
Pathophysiology/Gene locus 15q11-q13
Pathophysiology/Gene locus 20q13.2
Pathophysiology/Gene locus Chromosome 15
Pathophysiology/Gene locus Chromosome 20
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Calcific deposits/subcutaneous process
Pathophysiology/Absent parathyroid hormone receptors
Pathophysiology/Absent renal parathormone receptor
Pathophysiology/Parathyroid hormone non-responsiveness
Pathophysiology/Parathyroid shutdown
Pathophysiology/Ectopic bone formation
Pathophysiology/Metatopic/heterotopic calcification
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Endocrine/humoral disorders (category)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Vegetative-Autonomic/Endocrine (category)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Synonym/Albrights hereditary osteodystrophy
Synonym/Martin-Albright syndrome
Synonym/Osteodystrophy, hereditary, Albright's
Synonym/Seabright-Bantam syndrome
Treatment
Drug Therapy
RX/Calcitrol (Calcijex)
RX/Calcium gluconate infusion
RX/Calcium supplement
RX/Vitamin D2
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