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]

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]

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]

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]

[…] 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]

fibrosis, kidney cysts and mental retardation. [checkorphan.org]

arched palate, and micrognathia). [orpha.net]

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]

[…] 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]

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]

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]