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]

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]

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]

• Disability

  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]

• Short Finger

  […] 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]

• Prognathism

  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]

  Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye [se-atlas.de]

• Large Ears

  […] syndrome * Ambiguous genitalia * Deep set eyes * Large ears * 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, large ears 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, large ears, and everted upper lip), the skeleton (generalized chondrodysplasia, micromelia, short metacarpals [accessanesthesiology.mhmedical.com]

  7, trisomy 7p - Large ears Chromosome 7p duplication syndrome - large ears Chromosome 8 trisomy syndrome - large ears Chromosome 8, trisomy - Large ears Chromosome 8, trisomy 8q - Large ears Chromosome 8p inverted duplication syndrome - large ears Chromosome [geneticdisorders.info]

• 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]

• Miosis

  […] 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]

  Mievis–Verellen–Dumoulin syndrome Migraine Mikulicz syndrome Mild cognitive impairment Miller Fisher syndrome Miller–Dieker syndrome Milner–Khallouf–Gibson syndrome MILS syndrome Minamata disease Minkowski–Chauffard syndrome Minoxidil antenatal infection Miosis [sosu.us]

• Aniridia

  […] ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankylosing vertebral hyperostosis with tylosis [se-atlas.de]

• Brachydactyly

  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]

• Narrow Thorax

  Genitourinary External Genitalia Female: normal female genitalia Skeletal: chondrodysplasia Laboratory Abnormalities: 46,xy karyotype (1 of 2 patients) Skeletal Limbs: micromelia Skeletal Hands: short metacarpals short phalanges Chest External Features: narrow [malacards.org]

  Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. [mendelian.co]

• Short Hands

  hand bones * Short finger bones * Abnormal vertebral shape * Thickened skull * Short ilia * Short calf bone * Short ribs * Mental retardation * Underdeveloped brain * Narrow rib cage * Absent iris Causes - Nivelon Nivelon Mabille syndrome * Ambiguous [checkorphan.org]

• Aggressive Behavior

  behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity [se-atlas.de]

• Amenorrhea

  (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]

• Primary Amenorrhea

  amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). [orpha.net]

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]

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]

[…] 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]

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