CAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in addition to other problems. ... The genetic factors involved in most cases of CAKUT are unknown. Syndromic CAKUT is caused by changes in the genes associated with the particular syndrome. ... The genes most commonly associated with isolated CAKUT are PAX2 , which is also associated with renal coloboma syndrome, and HNF1B , which is involved in 17q12 deletion syndrome and RCAD syndrome. ... Mutations in many other genes involved in development of the urinary system have also been associated with isolated or syndromic CAKUT. Research shows that the same genetic mutation can lead to different kidney or urinary tract abnormalities, even among members of the same family.
In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (120330) (summary by Renkema et al., 2011).
Fried and Vure (1974) described an Ashkenazi family in which 3 of 4 children died with an almost identical syndrome. Within a week or so of birth, bloody diarrhea with swelling of the abdomen had its onset.
A number sign (#) is used with this entry because of evidence that CINCA syndrome (CINCA) is caused by heterozygous mutation in the gene encoding cryopyrin (NLRP3; 606416) on chromosome 1q44. ... See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype. ... Prieur et al. (1987) reported on the clinical presentation and course of 30 patients with CINCA syndrome observed in France, Germany, Finland, England, and the United States. Leone et al. (2003) studied 3 patients with CINCA syndrome and found that all showed normal phagocytosis and oxidative burst functions of neutrophils. ... Molecular Genetics Feldmann et al. (2002) identified heterozygous missense mutations in exon 3 of the CIAS1 gene (e.g., 606416.0007) in the affected members of each of 7 families with CINCA syndrome. Of 3 patients with CINCA syndrome studied by Leone et al. (2003), only 1 had a mutation in exon 3 of the CIAS1 gene.
Neonatal-onset multisystem inflammatory disease Other names Chronic infantile neurologic cutaneous and articular syndrome , [1] : 149 or CINCA Specialty Neurology , dermatology , rheumatology Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. ... It is one of the cryopyrin-associated periodic syndromes . NOMID can result from a mutation in the CIAS1 gene (also known as NLRP3 gene), which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle–Wells syndrome . NOMID has been successfully treated with the drug anakinra . ... Causes [ edit ] The disease is caused in 60% of cases by a mutated gene called CIAS1 that is known to be involved in other syndromes that appear somewhat similar, such as Muckle–Wells syndrome and familial cold urticaria . ... Differential diagnosis [ edit ] Aicardi–Goutières syndrome Still's disease Schnitzler syndrome Hyperimmunoglobulin D syndrome Familial Mediterranean fever Marshall syndrome Castleman's disease Still's disease does not affect children under 6 months old.Hyperimmunoglobulin D syndrome in 50% of cases is associated with mevalonate kinase deficiency which can be measured in the leukocytes. [ citation needed ] Treatment [ edit ] There have been attempts to control the inflammation using drugs that work in other conditions where inflammation is a problem.
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. The rash persists throughout life, although it changes in size and location. Affected individuals often have headaches, seizures, and vomiting resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Intellectual disability may occur in some people with this disorder. Hearing and vision problems may result from nerve damage and inflammation in various tissues of the eyes.
A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss). Epidemiology Whilst the exact prevalence of chronic infantile neurological, cutaneous, and articular (CINCA) syndrome is unknown, it is estimated that the whole spectrum of CAPS has a prevalence of 1/360,000 in France, CINCA being the less common form. ... Laboratory analyses document a nonspecific inflammatory syndrome with anemia, granulocyte hyperleukocytosis, elevated erythrocyte sedimentation rate (ESR) and elevated concentrations of C reactive protein. ... CINCA should be differentiated from similar monogenic or multifactorial autoinflammatory diseases, including, systemic onset juvenile idiopathic arthritis, tumor necrosis factor receptor 1 associated periodic syndrome, and the severe form of mevalonate kinase deficiency, CANDLE syndrome as well as the milder phenotype associated to mutations of NLRP3 (familial cold urticarial and Muckle-Wells syndrome). ... Prognosis Without adequate and timely treatment, quality of life is often poor. Syndrome severity is wide-ranging and the functional prognosis depends on the degree of neurological manifestations (such as intellectual disability and hearing loss) and the occurrence of tendinous retractions.
A number sign (#) is used with this entry because of evidence that Curry-Jones syndrome (CRJS) is caused by somatic mosaic mutation in the SMOH gene (601500) on chromosome 7q32. ... Thomas et al. (2006) described a 4-year-old boy with a mild form of Curry-Jones syndrome with no significant craniofacial, developmental, or gastrointestinal problems. ... Based on an association of trichoblastoma with basal cell carcinoma and of desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (109400) and PTCH (601309) mutations, the authors suggested that Curry-Jones syndrome may be caused by mutation in genes in the Sonic hedgehog (SHH) signaling pathway (see 600725). ... Mingarelli et al. (1999) noted phenotypic overlap with Curry-Jones syndrome but suggested that the features in their patient represented a 'new' syndrome. Molecular Genetics Twigg et al. (2016) studied tissue samples from 10 unrelated patients with Curry-Jones syndrome, including 6 previously reported patients (Temple et al., 1995; Thomas et al., 2006; Grange et al., 2008).
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas).
A number sign (#) is used with this entry because FG syndrome-4 (FGS4) is caused by mutation in the CASK gene (300172) on chromosome Xp11. Mental retardation with or without nystagmus is also caused by mutation in the CASK gene. Description FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003). ... For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450). FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. ... This novel locus for FG syndrome, designated FGS4, corresponds to a region of approximately 4.6 Mb on chromosome Xp11.4-p11.3. Molecular Genetics FG Syndrome 4 In affected members of the Italian family with FG syndrome originally reported by Piluso et al. (2003), Piluso et al. (2009) identified a missense mutation in the CASK gene (300172.0003), resulting in exon skipping due to improper recognition of an exonic splicing enhancer (ESE) motif.
CASK -related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth. People with MICPCH often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of areas of the brain called the cerebellum and the pons . The cerebellum is the part of the brain that coordinates movement. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.
Oligodactyly is therefore the opposite of polydactyly . [2] [3] Very rare, this medical condition usually has a genetic or familial cause. [3] [4] Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome. [5] It is a type of dysmelia . ... B (39): 752–754. doi : 10.1302/0301-620X.39B4.752 . ^ P D Turnpenny, J C Dean, P Duffty, J A Reid, and P Carter, "Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects." ... "Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child". American Journal of Medical Genetics Part A . 63 (3): 479–81. doi : 10.1002/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J . ... External links [ edit ] NIH website page on Oligodactyly Classification D DiseasesDB : 30700 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
Cardiorenal syndrome Specialty Nephrology Cardiorenal syndrome (CRS) is an umbrella term used in the medical field that defines disorders of the heart and kidneys whereby “acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other”. [1] The heart and the kidneys are involved in maintaining hemodynamic stability and organ perfusion through an intricate network. ... W.; W. Mullens (2010). "Cardiorenal syndrome in decompensated heart failure" . ... PMID 24247284 . ^ Schetz, Miet (2009). "Cardiorenal syndrome" . F1000 Medicine Reports . 78 : 1–5. doi : 10.3410/m1-78 . ... Greaves (2010). "The Cardiorenal Syndrome: A Review" . International Journal of Nephrology . 2011 : 1–11. doi : 10.4061/2011/920195 . ... V.; Katsiki N.; Tziomalos K.; Karagiannis A. (2011). "Preventing Cardio-renal Syndrome Rather than Treating it: Could Statins Play a Role?"
"Le syndrome de Charles Bonnet: hallucinations visuelles des vieillards sans deficience mentale" [Charles Bonnet syndrome: visual hallucinations of the elderly without mental impairment]. ... "What associates Charles Bonnet syndrome with age-related macular degeneration?". ... Copenhagen: Philibert, pp 426–428 ^ "Bonnet's syndrome (Charles Bonnet)" . Whonamedit. ... External links [ edit ] Information on Charles Bonnet syndrome from RNIB National Public Radio article with an audio segment about Charles Bonnet syndrome Oliver Sacks: What hallucination reveals about our minds Ted Talk, Feb 2009. Fortean Times article on Charles Bonnet syndrome 'Damn Interesting' article on Charles Bonnet syndrome W Burke (2002).
Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes.
A form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.
Congenital Zika syndrome is caused by exposure to the Zika virus before birth. ... Signs and symptoms of congenital Zika syndrome include birth defects (like small head size) and other health and development problems. ... Those who have traveled to Zika-affected areas may wish to take steps to prevent sexual transmission of the Zika virus. Babies with congenital Zika syndrome benefit from special medical care to address their healthcare needs.
Ruiz de la Fuente and Prieto (1980) described a new form of the heart-hand syndrome in 3 generations of a Spanish family with several instances of male-to-male transmission. ... The cardiac defect was intraventricular conduction defect in 3 and sick sinus syndrome in 1. The brachydactyly affected mainly the middle phalanges; the index and fifth fingers were more severely affected than the others. ... Cardiac - Intraventricular conduction defect - Sick sinus syndrome Skel - Brachydactyly - Short middle phalanges, esp. index and fifth fingers - Ulnar deviation of index fingers Inheritance - Autosomal dominant ▲ Close
Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers.
Clinical Features Figuera et al. (1993) reported a 10-month-old girl with facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula), and digital (oligodactyly, preaxial polydactyly) features supporting the diagnosis of OFD I syndrome (311200). However, the child also had remarkable radial shortening, fibular agenesis and coalescence of tarsal bones not previously described in OFD syndromes. ... Taybi and Lachman (1996) described this condition with mesomelic limb shortening as orofaciodigital syndrome type X. Limbs - Fibular aplasia - Oligodactyly - Preaxial polydactyly - Radial shortening - Coalescence of tarsal bones Inheritance - Autosomal dominant Mouth - Retrognathia - Cleft palate - Vestibular frenula Facies - Telecanthus Nose - Flat nasal bridge ▲ Close
Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl.
Odonto–tricho–ungual–digital–palmar syndrome Other names Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Odonto–tricho-ungual–digital–palmar syndrome is an autosomal dominant skin condition with salient clinical features of natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy. [1] : 571 See also [ edit ] Skin lesion References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005).
Clinical Features Mendoza and Valiente (1997) described an apparently 'new' autosomal dominant ectodermal dysplasia syndrome, which they designated odontotrichoungual-digital-palmar syndrome.
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges.
Stratton-Parker Syndrome Other names Mullerian aplasia with hypoplastic thumbs Specialty Orthopedic Michels Caskey syndrome is a rare disorder that combines spinal and skeletal abnormalities, especially of the thumbs, with abnormal or absent female reproductive organs. ... Synonyms include hypoplastic thumb Mullerian aplasia , and Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities . [1] See also [ edit ] Mullerian aplasia References [ edit ] ^ "Michels Caskey syndrome" . Genetic and Rare Disease Information Center .
Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome Specialty Dermatology Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome (also known as "HOPP syndrome" [1] ) is a cutaneous condition characterized by a prominent palmoplantar keratoderma . [1] See also [ edit ] Hereditary sclerosing poikiloderma List of cutaneous conditions References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Clinical Features Van Steensel et al. (2002) reported a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acroosteolysis, and psoriasis-like skin lesions. The syndrome resembled Papillon-Lefevre syndrome (245000), characterized by palmoplantar keratoderma, periodontitis, and psoriasis-like skin lesions, and particularly Haim-Munk syndrome (245010), an allelic variant of Papillon-Lefevre with acroosteolysis. ... Additionally, they lacked the pes planus seen in Haim-Munk syndrome. The proband had dystrophic nails and absent eyebrows and lashes since birth, with thickened palmoplantar skin since the age of 2 years. ... They proposed that their patients suffered from a theretofore undescribed syndrome possibly caused by mutations in a gene that has a functional or structural relation with CTSC.
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs.
