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]
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]
"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]
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]
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]
Genes related to Chondrodysplasia-pseudohermaphroditism Syndrome HHAT Clinical Features Top most frequent phenotypes and symptoms related to Chondrodysplasia-pseudohermaphroditism Syndrome Intellectual disability Microcephaly Strabismus Intrauterine growth[mendelian.co]
disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability[se-atlas.de]
[…] below: * Severe dwarfism * Ambiguous genitalia * Retarded fetal growth * Myosis * Strabismus * Underdeveloped iris * Papillous coloboma * Deep set eyes * Short space between eyelids * Epicanthic folds * Large ears * Short limbs * Short hand bones * Short[checkorphan.org]
finger Heterotopia Abnormal oral frenulum morphology Limb undergrowth Abnormality of the nail Abnormality of the hair Dandy-Walker malformation Hand polydactyly Cubitus valgus Abnormal heart morphology Hypoplastic left heart Polydactyly Pectus carinatum[mendelian.co]
Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular[orpha.net]
[…] syndrome * Ambiguous genitalia * Deep set eyes * Largeears * Mental retardation * Narrow rib cage * Retarded fetal growth * Short ribs * Short space between eyelids * Strabismus Prevention - Nivelon Nivelon Mabille syndrome Not supplied.[checkorphan.org]
Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, largeears and mouth, mild prognathism), muscular[orpha.net]
Clinical features involve the head and central nervous system (thickened skull, microcephaly, hypoplasia/ agenesis of the cerebellar vermis, largeears, and everted upper lip), the skeleton (generalized chondrodysplasia, micromelia, short metacarpals[accessanesthesiology.mhmedical.com]
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]
[…] the skeleton (generalized chondrodysplasia, micromelia, short metacarpals and phalanges, which are widened in the midportion and distally, short iliac bones, broadened epiphyses, trapezoid vertebral bodies), and the eyes (deep set eyes, strabismus, miosis[accessanesthesiology.mhmedical.com]
0005622 16 male pseudohermaphroditism 59 32 frequent (33%) Frequent (79-30%) HP:0000037 17 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049 18 abnormality of the shoulder 59 32 hallmark (90%) Very frequent (99-80%) HP:0003043 19 miosis[malacards.org]
Autism Mandibular prognathia Gait ataxia Absent speech Cerebral cortical atrophy Encephalopathy Hyperpigmentation of the skin Esotropia Epileptic encephalopathy Abnormality of the clavicle Brain very small Broad long bones Abnormality of the shoulder Miosis[mendelian.co]
The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly).[ncbi.nlm.nih.gov]
[…] dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly[orpha.net]
[…] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow[se-atlas.de]
[…] ears Mental retardation, X-linked, syndromic, due to JARID1C mutation - large ears Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance - large ears Mesomelic dysplasia, Camera type - cup-shaped ears Microcephaly brachydactyly[geneticdisorders.info]
Other features include pseudohermaphroditism and narrowchest with 11 pairs of ribs. Anesthesia in this condition has not been described. The features of the disease suggest that restrictive lung disease may occur as a result of chest malformations.[accessanesthesiology.mhmedical.com]
Diseases related with Strabismus and Narrowchest In the following list you will find some of the most common rare diseases related to Strabismus and Narrowchest that can help you solving undiagnosed cases.[mendelian.co]
The features of the disease suggest that restrictive lung disease may occur as a result of chest malformations. Intraoperative positioning may be difficult.[accessanesthesiology.mhmedical.com]
An autosomal recessive inheritance has been suggested. [from SNOMEDCT_US ] IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading.[ncbi.nlm.nih.gov]
An autosomal recessive inheritance has been suggested.[orpha.net]
[…] cells where they can restart sperm production and restore fertility. (2012-12-10) Early life and in utero factors found to influence testicular function in adulthood A new study based on a 20-year follow-up of one of the world's largest study cohorts, suggests[brightsurf.com]
(see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea[orpha.net]
amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly).[orpha.net]
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here.[pediascape.org]
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]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.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]
Synonyms chondrodysplasia - disorder of sex development chondrodysplasia - pseudohermaphroditism nivelon-nivelon-mabille syndrome Etiology Please input defination information here. Diagnosis Please input defination information here.[pediascape.org]
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]
[…] 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]
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]
[…] infertility in cancer patients A new study led by Brian Hermann, assistant professor of biology at The University of Texas at San Antonio (UTSA), shows promising evidence that a medication previously used to prevent infections in cancer patients can[brightsurf.com]
Preventing and treating diabetic nerve problems. Is Soy effective? Syndromes Some people have allergies to dyes and flavors. If a child has a diagnosed allergy, talk to a dietitian.[waittfoundation.org]
In uniting to these, the diverse signaling pathways that are associated with room sequence typical also are momentous targets, with the first-rate prevention striving being directed at correcting nutrient deficiencies and insufficiencies.[waittfoundation.org]