Symptoma

Thompson-Baraitser Syndrome

Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome

Classification level: Disorder Synonym(s): Thompson-Baraitser syndrome Prevalence: 1 / 1 000 000 Inheritance: - Age of onset: Neonatal, Infancy ICD-10: - OMIM: 213010 UMLS: C2931226 MeSH: - GARD: 5177 MedDRA: - The documents contained in this web site are presented [orpha.net]

We describe a newborn girl presenting with the same pattern of congenital anomalies as the patients of the family originally described by Sorsby (OMIM 120400). [semanticscholar.org]

We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome. [ncbi.nlm.nih.gov]

AGRADECIMENTOS O presente trabalho foi realizado com suporte financeiro da FAPESP e do CNPq. REFERENCIAS 1. Angelman H. "Puppet" children: a report on three cases. Develop Med Child Neurol 1965;7:681 -688. [ Links ] 2. [scielo.br]

[…] cultured lymphocytes and in fibroblasts; low frequency trisomy 8 mosaicism has been reported in both lymphocyte and primary fibroblast cultures as well as in uncultured blood and buccal smears, indicating this characteristic chromosomal abnormality is present [atlasgeneticsoncology.org]

  • Disability

    Homepage Rare diseases Search Search for a rare disease Hepatic fibrosis-renal cysts-intellectual disability syndrome Disease definition Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized [orpha.net]

    Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome: Name: Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 56 Hepatic Fibrosis-Renal Cysts-Intellectual Disability [malacards.org]

    [MIM 243 310, 614 583] ( ptosis-iridic coloboma-intellectual disability syndrome, cerebro-fronto-facial syndrome type 3) Estimated prevalence at 1 / 106. Autosomal dominant transmission or de novo mutation. [sites.uclouvain.be]

  • Short Stature

    Abstract The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. [ncbi.nlm.nih.gov]

    […] frequent (33%) Frequent (79-30%) HP:0001250 5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639 6 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093 7 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196 8 short [malacards.org]

    PHENOTYPE_AND_CLINICS - juvenile cataract, corneal dystrophy (50%) - hypodontia - hypogonadism (25%) - proportionate short stature - premature aging Detailed definition of the clinical profile in a contemporary cohort of 41 RTS patients evidences some [atlasgeneticsoncology.org]

  • Developmental Delay

    delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). [orpha.net]

    The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. [scielo.br]

  • Tachypnea

    Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. [orpha.net]

  • Failure to Thrive

    […] to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). [orpha.net]

  • Hyperpigmentation

    Note clinical expression highly variable Phenotype and clinics main features include: - growth retardation - skin defects appearing within the first year of life (90%) and persisting throuhout life: atrophic dermatosis, poikiloderma, hyperpigmentation [atlasgeneticsoncology.org]

  • Erythema

    […] contemporary cohort of 41 RTS patients evidences some differences in the distribution of the clinical findings (figure 1), which should be kept into account to optimize diagnostic criteria diagnosis : the diagnosis is difficult before the development of the erythema [atlasgeneticsoncology.org]

  • Sparse Hair

    hair which may progress to partial or total alopecia; dystrophic nails - photosensitivity - congenital skeletal defects - hypoplasia or absence of the radii and thumbs, osteopenia, cystic or sclerotic changes of the long bones - ( 50%); bone age lower [atlasgeneticsoncology.org]

  • Osteopenia

    atrophic dermatosis, poikiloderma, hyperpigmentation, teleangiectasia - sparse hair which may progress to partial or total alopecia; dystrophic nails - photosensitivity - congenital skeletal defects - hypoplasia or absence of the radii and thumbs, osteopenia [atlasgeneticsoncology.org]

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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]

Treatment only protection against sunlight is possible by means of sunscreens with both UVA and UVB protection; dermatologic therapies; surgical correction of skeletal malformations and cataracts; regular and careful work-up of signs and symptoms of both [atlasgeneticsoncology.org]

Neoplastic risk patients have an enhanced risk of bone cancer, specifically osteosarcoma (30 out of 300 - 10%- in the literature) and nonmelanoma skin cancers ( squamous cell carcinoma, basal cell carcinoma) with an estimated prevalence around 5% Etiology [atlasgeneticsoncology.org]

Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 56 Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 58 Thompson-Baraitser Syndrome 58 Thompson Baraitser Syndrome 71 Characteristics: Orphanet epidemiological [malacards.org]