The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]

ORPHA:1422 Synonym(s): Nivelon-Nivelon-Mabille syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Antenatal ICD-10: Q87.1 OMIM: 600092 UMLS: C1838654 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Severe growth (already antenatal in origin) and mental retardation are present. [accessanesthesiology.mhmedical.com]

Arguments are presented in favor of the hypothesis that the condition is due to an X-linked dominant gene lethal in hemizygous males. [link.springer.com]

"DSD comprise a wide range of molecular etiologies, with great variation in presentation," said Uli. "Diagnosis in individuals may occur any time from the newborn period to adulthood." [medindia.net]

• Macrotia

  Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and macrotia Description from OMIM: 600092 Symptoms via clinical synopsis from OMIM: 57 Head And Neck Head: microcephaly Neurologic Central Nervous System [malacards.org]

  Chondrodysplasia-pseudohermaphroditism Syndrome HHAT Clinical Features Top most frequent phenotypes and symptoms related to Chondrodysplasia-pseudohermaphroditism Syndrome Intellectual disability Microcephaly Strabismus Intrauterine growth retardation Severe short stature Macrotia [mendelian.co]

  Lacrimoauriculodentodigital syndrome - cupped ears LADD Syndrome - cupped ears Lovastatin -- Teratogenic Agent - absent ear canal Lymphangiectasies and lymphedema Hennekam type - abnormal ear shape Lymphoedema -- lymphangiectasia -- mental retardation - abnormal ear shape Macrotia [geneticdisorders.info]

• Short Hands

  […] space between eyelids * Epicanthic folds * Large ears * Short limbs * Short hand bones * Short finger bones * Abnormal vertebral shape * Thickened skull * Short ilia * Short calf bone * Short ribs * Mental retardation * Underdeveloped brain * Narrow [checkorphan.org]

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Treatment - Nivelon Nivelon Mabille syndrome Not supplied. Resources - Nivelon Nivelon Mabille syndrome Not supplied. [checkorphan.org]

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 patient may have seizures, and pharmacologic treatment may interfere with the metabolism of some anesthetic drugs. Nivelon A, Nivelon JL, Mabille JP, et al: New autosomal recessive chondrodysplasia-pseudohermaphroditism syndrome. [accessanesthesiology.mhmedical.com]

According to Uli, as molecular diagnostic technology advances, the science underlying DSD will become more precise which will inform treatment plans. [medindia.net]

Prognosis - Nivelon Nivelon Mabille syndrome Not supplied. Treatment - Nivelon Nivelon Mabille syndrome Not supplied. Resources - Nivelon Nivelon Mabille syndrome Not supplied. [checkorphan.org]

Despite the dim prognosis normally associated with this cancer, the girl has gone through treatment and is currently in remission. [medicalxpress.com]

Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010 ). [mendelian.co]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

"DSD comprise a wide range of molecular etiologies, with great variation in presentation," said Uli. "Diagnosis in individuals may occur any time from the newborn period to adulthood." [medindia.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]

SNPs for HHAT No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHAT Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for HHAT Genetic Association Database (GAD) HHAT Human Genome Epidemiology [genecards.org]

Diseases Nivelon Nivelon Mabille syndrome PIBI(D)S syndrome Acitretine antenatal infection Biemond syndrome type 2 Ashman phenomenon Visna Maedi complex Note on related hazard: In epidemiology purchase keftab 125 mg fast delivery, commensurate gamble [waittfoundation.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.es]

[…] brain * Narrow rib cage * Absent iris Causes - Nivelon Nivelon Mabille syndrome * Ambiguous genitalia * Deep set eyes * Large ears * Mental retardation * Narrow rib cage * Retarded fetal growth * Short ribs * Short space between eyelids * Strabismus Prevention [checkorphan.org]

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