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Qazi-Markouizos Syndrome


Presentation

  • Dysharmonic skeletal maturation-muscular fiber disproportion syndrome Prevalence: Inheritance: - Age of onset: Infancy , Neonatal ICD-10: Q87.8 OMIM: 600096 UMLS: C2931142 MeSH: C536259 GARD: 371 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
Developmental Delay
  • delay 0011344 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Showing of 21 Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
Weakness
  • 0005832 EEG abnormality 0002353 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Long philtrum 0000343 Muscular hypotonia Low or weak[rarediseases.info.nih.gov]
  • Learn more Other less relevant matches: High match NATIVE AMERICAN MYOPATHY; NAM Native American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature[mendelian.co]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Physicians, Nurse Practitioners and PAs, already on Doximity.[doximity.com]
Swelling
  • Showing of 21 Percent of people who have these symptoms is not available through HPO Abdominal distention Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Abnormal palmar dermatoglyphics 0001018 Abnormality of metabolism[rarediseases.info.nih.gov]
Constipation
  • Homepage Rare diseases Search Search for a rare disease Qazi-Markouizos syndrome Disease definition Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal[orpha.net]
  • […] following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3010Disease definitionQazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation[malacards.org]
  • […] bone mineral density Cognitive impairment Constipation Cryptorchidism Highly arched eyebrow Hypertelorism Long philtrum Microdontia Delayed and Dysharmonic Skeletal Maturation increased size Disproportionate Muscle Fibres .[qa.virinchihospitals.com]
Abdominal Bloating
  • Showing of 21 Percent of people who have these symptoms is not available through HPO Abdominal distention Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ] 0003270 Abnormal palmar dermatoglyphics 0001018 Abnormality of metabolism[rarediseases.info.nih.gov]
Drooling
  • The signs and symptoms of Qazi-Markouizos Syndrome may include: Abdominal distention Abnormal palmar dermatoglyphics Abnormality of metabolism/homeostasis Chronic constipation Cryptorchidism Drooling Dysharmonic delayed bone age EEG abnormality High palate[dovemed.com]
  • Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal recessive inheritance 0000007 Chronic constipation Infrequent bowel movements 0012450 Constipation 0002019 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Drooling[rarediseases.info.nih.gov]
  • Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers.[doi.org]
Microdontia
  • […] constipation Severe psychomotor retardation Seizures Delayed bone age Abnormal bone development Abnormal dermatoglyphics Abnormality of bone mineral density Cognitive impairment Constipation Cryptorchidism Highly arched eyebrow Hypertelorism Long philtrum Microdontia[qa.virinchihospitals.com]
  • […] fibers (normally about the same size), and a predominance of type I fibers by numbers (normally about equal)), nonprogressive hypotonia, facial malformations (hypertelorism, broad nasal root, long philtrum, mouth held open, high-arched and narrow palate, microdontia[accessanesthesiology.mhmedical.com]
  • […] coalition Tangier disease TANGO2-Related Metabolic Encephalopathy and Arrhythmias TAR syndrome Tardive dyskinesia - Not a rare disease TARP syndrome Tarsal carpal coalition syndrome Taurodontia, absent teeth, sparse hair syndrome Taurodontism Taurodontism, microdontia[herenciageneticayenfermedad.blogspot.com]
  • […] chorioretinopathy, lymphedema, or mental retardation Microcephaly, Epilepsy, and Diabetes Syndrome Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly-Capillary Malformation Syndrome Microcephaly-Micromelia Syndrome Microdontia[rgd.mcw.edu]
High Arched Palate
  • Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers.[doi.org]
  • Additional findings included narrow and high-arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the boys had undescended testes, hypertelorism, and tapered fingers.[findzebra.com]
Muscle Weakness
  • weakness Dry skin Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Severe muscular hypotonia Malignant hyperthermia Multiple skeletal anomalies Short columella Narrow mouth Eunuchoid habitus Bilateral renal agenesis Alobar[mendelian.co]
  • WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA.[rgd.mcw.edu]
Torticollis
  • […] bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Small nail Small nails 0001792 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Torticollis[rarediseases.info.nih.gov]
  • Madokoro Ohdo Sonoda syndrome Maffucci syndrome Majeed syndrome Male pseudohermaphroditism due to defective LH molecule Male pseudohermaphroditism intellectual disability syndrome, Verloes type Malignant hyperthermia Malignant hyperthermia arthrogryposis torticollis[herenciageneticayenfermedad.blogspot.com]
Muscle Hypotonia
  • Cohen syndrome 0 *Intellectual Disability *Microcephaly *Muscle Hypotonia *Myopia *Obesity Developmental Disabilities Fingers/abnormalities. Joubert syndrome 3 0 *Cerebellar Diseases *Muscle Hypotonia *Ocular Motility Disorders.[reference.md]
Muscle Cramp
  • CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA.[rgd.mcw.edu]
Hypertelorism
  • […] problems Symptoms: Chronic constipation Severe psychomotor retardation Seizures Delayed bone age Abnormal bone development Abnormal dermatoglyphics Abnormality of bone mineral density Cognitive impairment Constipation Cryptorchidism Highly arched eyebrow Hypertelorism[qa.virinchihospitals.com]
  • ., type I muscle fibers are significantly smaller than type II fibers (normally about the same size), and a predominance of type I fibers by numbers (normally about equal)), nonprogressive hypotonia, facial malformations (hypertelorism, broad nasal root[accessanesthesiology.mhmedical.com]
  • […] signs and symptoms of Qazi-Markouizos Syndrome may include: Abdominal distention Abnormal palmar dermatoglyphics Abnormality of metabolism/homeostasis Chronic constipation Cryptorchidism Drooling Dysharmonic delayed bone age EEG abnormality High palate Hypertelorism[dovemed.com]
  • Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Drooling Dribbling 0002307 Dysharmonic delayed bone age 0005832 EEG abnormality 0002353 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism[rarediseases.info.nih.gov]
Prominent Nasal Root
  • nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures Seizure 0001250 Severe global developmental delay 0011344 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Showing of 21 Last updated: 3/1/2019[rarediseases.info.nih.gov]
  • Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers.[doi.org]
Psychomotor Retardation
  • Homepage Rare diseases Search Search for a rare disease Qazi-Markouizos syndrome Disease definition Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal[orpha.net]
  • MalaCards based summary : Qazi Markouizos Syndrome, also known as hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion , is related to puerto rican infant hypotonia syndrome[malacards.org]
  • retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion Dysharmonic skeletal maturation muscular fibre disproportion edit English Qazi Markouizos syndrome syndrome that is characterized by hypotonia[wikidata.org]
  • “Qazi Markouizos Syndrome” In our body, the dis-order, Qazi Markouizos Syndrome is the allopathic name of a hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fiber type of disproportion condition[wellnessadvocate.com]
Seizure
  • […] and hypotonia , and has symptoms including seizures and chronic constipation .[malacards.org]
  • Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.[orpha.net]
  • […] maturation - muscular fibre disproportion Qazi-Markouizos syndrome Puertorican infant hypotonia syndrome Dysharmonic skeletal maturation-muscular fiber disproportion syndrome PUERTO RICAN INFANT HYPOTONIA SYNDROME Hypotonia, psychomotor retardation, seizures[wikidata.org]
Neuralgia
  • Some of them include Bell’s palsy, spinal cord tumors, spinal cord or brain injury, Guillain-Barre syndrome, epilepsy, and neuralgia. Muscle disorders can also cause the syndrome.[healthery.com]
  • Syndrome Nathalie Syndrome Nelson syndrome neonatal abstinence syndrome nephrotic syndrome nerve compression syndrome Nestor-Guillermo Progeria Syndrome Netherton syndrome Neuhauser Daly Magnelli Syndrome Neuhauser Eichner Opitz Syndrome Neuhauser Syndrome Neuralgia[rgd.mcw.edu]
Cryptorchidism
  • […] abnormal bone development and muscle problems Symptoms: Chronic constipation Severe psychomotor retardation Seizures Delayed bone age Abnormal bone development Abnormal dermatoglyphics Abnormality of bone mineral density Cognitive impairment Constipation Cryptorchidism[qa.virinchihospitals.com]
  • The signs and symptoms of Qazi-Markouizos Syndrome may include: Abdominal distention Abnormal palmar dermatoglyphics Abnormality of metabolism/homeostasis Chronic constipation Cryptorchidism Drooling Dysharmonic delayed bone age EEG abnormality High palate[dovemed.com]
  • […] palmar dermatoglyphics 0001018 Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal recessive inheritance 0000007 Chronic constipation Infrequent bowel movements 0012450 Constipation 0002019 Cryptorchidism[rarediseases.info.nih.gov]

Workup

Delayed Bone Age
  • Symptoms - Qazi Markouizos syndrome Some of the symptoms of Qazi Markouizos syndrome incude: * Chronic constipation * Severe psychomotor retardation * Seizures * Delayed bone age * Abnormal bone development Causes - Qazi Markouizos syndrome Not supplied[checkorphan.org]
  • Description: Rare syndrome characterized mainly by abnormal bone development and muscle problems Symptoms: Chronic constipation Severe psychomotor retardation Seizures Delayed bone age Abnormal bone development Abnormal dermatoglyphics Abnormality of[qa.virinchihospitals.com]
  • bone age with abnormal ossification, pectus excavatum, seizures, and mental retardation.[accessanesthesiology.mhmedical.com]
  • The signs and symptoms of Qazi-Markouizos Syndrome may include: Abdominal distention Abnormal palmar dermatoglyphics Abnormality of metabolism/homeostasis Chronic constipation Cryptorchidism Drooling Dysharmonic delayed bone age EEG abnormality High palate[dovemed.com]
  • bone age 0005832 EEG abnormality 0002353 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Long philtrum 0000343 Muscular hypotonia[rarediseases.info.nih.gov]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • : physical treatments cognitive (talk) therapy anti-depressant mood stabilizing medications physical therapy Lifestyle Management: Genetic counseling[qa.virinchihospitals.com]
  • Prompt diagnosis and subsequent treatment may prevent the occurrence of the syndrome.[healthery.com]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Qazi-Markouizos Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications[dovemed.com]
  • Prognosis - Qazi Markouizos syndrome Not supplied. Treatment - Qazi Markouizos syndrome Not supplied. Resources - Qazi Markouizos syndrome Not supplied.[checkorphan.org]
  • The prognosis is not good. Not only is it a battle for patients to stay alive but those that do stay alive are hampered by tremendous physical and mental handicaps.[healthery.com]

Etiology

  • To date, the molecular etiology of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome,OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME remains unknown. External links O[findzebra.com]
  • The etiology of MRKH syndrome is unknown, but it is believed to be due to interrupted embryological development in weeks 8 to 12 of gestation.[link.springer.com]
  • Mutations in the FSH receptor gene tease been described as an autosomal reces- sive etiology. It emerges from the medulla as a series of subtle rootlets between the pyramid and the olive.[ddna.org]

Epidemiology

  • As discussed on, anx- iety disorders have been linked to allergic and autoimmune disorders past a meritorious number of epidemiological and clinical studies. Smith responds to your doubt (see #9), "I feel like unknown cares." You reply: a.[ddna.org]
Sex distribution
Age distribution

Pathophysiology

  • In this chapter we compel look at: (1) CBF physiology and pathophysiology and (2) CBF monitors cheap escitalopram 5 mg anxiety yelling.[sarcomacancer.org]

Prevention

  • Qazi-Markouizos Syndrome Prevention Preventing the syndrome is sometimes difficult since it usually occurs as a result of genetic disorders. Nevertheless, other management practices can help. Genetic counseling is among the preventive measures.[healthery.com]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Prevention - Qazi Markouizos syndrome Not supplied. Diagnosis - Qazi Markouizos syndrome Not supplied. Prognosis - Qazi Markouizos syndrome Not supplied. Treatment - Qazi Markouizos syndrome Not supplied.[checkorphan.org]
  • Heart disease prevention and management Cholesterol management High Blood Pressure (hypertension) Polycystic Ovary Syndrome (PCOS) Metabolic syndrome Insulin resistance syndrome Cancer prevention and management PMS and Menopause Endometriosis Pregnancy[stepupnutrition.org]

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