Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. ... Other signs and symptoms of Meckel syndrome vary widely among affected individuals. ... Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. ... Mutations in the genes associated with Meckel syndrome lead to problems with the structure and function of cilia. ... Mutations in several other genes have been identified in people with features similar to those of Meckel syndrome, although it is unclear whether these individuals actually have Meckel syndrome or a related disorder (often described as a "Meckel-like phenotype").
An accurate estimate of the prevalence of FAMMM syndrome is difficult to make given the highly variable phenotype displayed both between and within FAMMM syndrome kindreds and the limited data available. ... Melanomas can arise from atypical moles or de novo and have been reported in some FAMMM syndrome patients as early as the second to third decade of life. ... Other cancers that can be rarely associated with FAMMM syndrome include breast cancer, esophageal cancer and sarcoma. ... However, approximately 60% of patients with FAMMM syndrome do not have a CDKN2A mutation. ... Genetic counseling FAMMM syndrome is inherited in an autosomal dominant manner with incomplete penetrance.
Isolated and domesticated llamas are more likely to suffer from berserk llama syndrome. Berserk llama syndrome (usually shortened to BLS ), aberrant behavior syndrome , or berserk male syndrome (as it is more pronounced in males) is a psychological condition suffered by human-raised camelids , particularly llamas and alpacas , that can cause them to exhibit dangerously aggressive behavior toward humans. ... Female llamas can also suffer from berserk llama syndrome but their behavior is usually limited to spitting and difficult handling. [5] Prevention and treatment [ edit ] In males, the chance of developing berserk llama syndrome can be reduced through castration before puberty . [7] However, BLS can still appear in gelded males. [8] A majority of berserk males are euthanized. [9] [10] References [ edit ] ^ a b "Berserk Male Syndrome" . ... Retrieved 2007-10-16 . ^ "John Mallon - Gentling & Training Llamas & Alpacas (Aberrant Behavior Syndrome)" . www.johnmallonclinics.net . Retrieved 2020-06-21 . ^ "Berserk Llama Syndrome" . 2007-10-30 . Retrieved 2020-06-21 . ^ a b "20 What is Berserk Male Syndrome?" ... Retrieved 2007-10-16 . ^ "Daily Curio #980: Berserk llama syndrome" . Curious.com . Retrieved 2020-06-21 . ^ "Berserk llama attacks woman in Central Oregon" .
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. ... Distinctive facial features that can occur with acrocallosal syndrome include widely spaced eyes (hypertelorism ) and a high, prominent forehead . ... Causes Mutations in the KIF7 gene have been found to cause acrocallosal syndrome. Mutations in another gene, GLI3 , can also cause features of this disorder. However, the signs and symptoms overlap significantly with those of a similar disorder called Greig cephalopolysyndactyly syndrome (which is also caused by GLI3 gene mutations), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. ... The roles of these genes in brain and limb patterning may help explain why mutations lead to agenesis of the corpus callosum, polydactyly, and the other features of acrocallosal syndrome. Learn more about the genes associated with Acrocallosal syndrome GLI3 KIF7 Inheritance Pattern When acrocallosal syndrome is caused by KIF7 gene mutations, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. ... Differential diagnosis Differential diagnosis includes Greig cephalopolysyndactyly, oral-facial-digital I and II, Meckel-Gruber, Smith-Lemli-Opitz, Rubinstein-Taybi, cerebrooculofacioskeletal, Aicardi, Neu-Laxova, pseudotrisomy 13, Toriello-Carey, otopalatodigital II and Da Silva syndromes (see these terms). Antenatal diagnosis Antenatal diagnosis is based on ultrasonography examination from the 20th week of gestation and magnetic resonance imaging (MRI) of the fetus.
MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. ... Frequency MED13L syndrome is a rare disorder that occurs in an estimated 1.6 per 100,000 newborns. ... Causes As its name suggests, MED13L syndrome is caused by mutations in a gene known as MED13L . ... It is unclear how these changes lead to the particular developmental and physical features of MED13L syndrome. Learn more about the gene associated with MED13L syndrome MED13L Inheritance Pattern MED13L syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered MED13L gene in each cell is sufficient to cause the disorder. ... In these instances, the parent has a MED13L gene mutation in a small number of cells, including reproductive cells (eggs or sperm), and does not show any signs or symptoms of MED13L syndrome.
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features. ... Rare intragenic microduplications within MED13L are also reported. Diagnostic methods The syndrome could be suspected on the association of developmental delay, speech impairment, motor delay, and facial features (notably, an open mouth with a protruding tongue, a thin vermillion border, upslanting palpebral fissures and a bulbous nasal tip). ... Differential diagnosis Some patients share some clinical features observed in Kleefstra syndome, Mowat-Wilson syndrome, Kabuki syndrome and 1p36 microdeletion.
Description Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. ... Cafiero et al. (2015) noted phenotypic similarities to the 1p36 deletion syndrome (607872). Cytogenetics In a 7-year-old girl with delayed psychomotor development and complex congenital heart malformations, Muncke et al. (2003) found a de novo heterozygous balanced translocation t(12,17)(q24.1;q21) that interrupted the MED13L gene on chromosome 12q24; no genes were identified in the breakpoint region on chromosome 17.
Smith-Kingsmore syndrome is a neurological disorder characterized by a head that is larger than normal (macrocephaly ), intellectual disability, and seizures. ... However, not everyone with Smith-Kingsmore syndrome has distinctive facial features. Frequency Smith-Kingsmore syndrome is a rare condition with an unknown prevalence. ... MTOR gene mutations that cause Smith-Kingsmore syndrome increase the activity of the mTOR protein and, consequently, mTOR signaling. ... It is unclear why the brain is particularly affected in people with Smith-Kingsmore syndrome. Learn more about the gene associated with Smith-Kingsmore syndrome MTOR Inheritance Pattern Smith-Kingsmore syndrome follows an autosomal dominant inheritance pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax.
A number sign (#) is used with this entry because of evidence that Smith-Kingsmore syndrome (SKS) is caused by heterozygous mutation in the MTOR gene (601231) on chromosome 1p36. Description Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).
Associated conditions [ edit ] Marfanoid habitus is a connective tissue disorder which is generally associated with other syndrome such as Ehlers-Danlos syndrome, Perrault syndrome and Stickler syndrome. Associated conditions include: Multiple endocrine neoplasia type 2B [1] [2] Homocystinuria [3] Ehlers-Danlos syndrome : [4] Marfanoid habitus is a connective tissue disorder which is generally associated with Ehlers-Danlos syndrome type 3 (hypermobility type). It is an autosomal dominant inherited or new mutation in chromosome 15. Snyder–Robinson syndrome at SMS , where the incidence shows 1 in 5,000-10,000 in all ethnic groups Perrault syndrome : Marfanoid habitus is a nonspecific feature of Perrault syndrome. Diagnosis [ edit ] Medical diagnostic criteria to differentiate Marfanoid habitus from Marfan syndrome : Marfanoid habitus Marfan syndrome Arm span to height ratio >1.03 >1.05 Scoliosis >5° >20° References [ edit ] ^ Prabhu M, Khouzam RN, Insel J (November 2004). "Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report".
Rud syndrome Symptoms RUDS Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance , [1] named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome . [1] Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome doesn't exist. [2] [3] Contents 1 Presentation 2 Diagnosis 3 Treatment 4 Eponym 5 References 6 External links Presentation [ edit ] While inclusion criteria for Rud syndrome have varied considerably, the major manifestations includes congenital ichthyosis , hypogonadism , small stature, mental retardation , and epilepsy . [4] [5] : 502 [6] : 564 Ocular findings were inconsistently reported and included strabismus , blepharoptosis , blepharospasm , glaucoma , cataract , nystagmus , and retinitis pigmentosa . ... Retrieved 2017-10-29 . ^ Happle, Rudolf (January 2012). "Rud syndrome does not exist". European Journal of Dermatology . 22 (1): 7. doi : 10.1684/ejd.2011.1601 . ... PMID 22067942 . ^ a b Kaufman, Lawrence M. (1998). "A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram".
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. ... There are likely more people who are undiagnosed because adults who seem unaffected may have had uncombable hair syndrome in childhood. Causes Uncombable hair syndrome is caused by mutations in the PADI3 , TGM3 , or TCHH gene. ... In children with uncombable hair syndrome, 50 to 100 percent of their strands of hair have an irregular shape. ... Some people with uncombable hair syndrome do not have an identified mutation in one of these three genes. ... In still other cases of uncombable hair syndrome, the inheritance pattern is unknown.
A number sign (#) is used with this entry because of evidence that uncombable hair syndrome-1 (UHS1) is caused by homozygous or compound heterozygous mutation in the PADI3 gene (606755) on chromosome 1p36. ... Genetic Heterogeneity of Uncombable Hair Syndrome See UHS2 (617251), caused by mutation in the TGM3 gene (600238) on chromosome 20p12, and UHS3 (617252), caused by mutation in the TCHH gene (190370) on chromosome 1q21. ... Zanca and Zanca (1993) stated that the earliest descriptions of this syndrome date back to the beginning of the 20th century, to the observations made by Le Double and Houssay (1912) in their book entitled 'Les Velus' (The Hirsute), regarding a syndrome they called 'chevelure en vadrouille' (mop hair), comparing the hair of affected individuals to a mop used in the navy to swab the decks. ... Basmanav et al. (2016) reported 9 patients with uncombable hair syndrome with a mutation in the PADI3 gene (see MOLECULAR GENETICS). ... Calderon et al. (2009) stated that the majority of cases of uncombable hair syndrome are inherited in an autosomal dominant manner with either complete or incomplete penetrance Molecular Genetics In a family from the U.K. in which 2 of 4 sibs had uncombable hair syndrome, U.
A number sign (#) is used with this entry because of evidence that uncombable hair syndrome-3 (UHS3) is caused by homozygous mutation in the TCHH gene (190370) on chromosome 1q21. One such patient has been reported. Description Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. ... Molecular Genetics In a 19-year-old German woman with uncombable hair syndrome, U. Basmanav et al. (2016) identified a homozygous mutation in the TCHH gene (190370.0001).
Le Double and F. Houssay. [25] The syndrome was described in 1973 by A. Dupré, P. ... S2CID 25846825 . ^ a b "Girl With Uncombable Hair Syndrome Rocks Her Rare Condition With Style" . ... "Uncombable hair syndrome" (PDF) . Orphanet Encyclopedia . Retrieved 1 September 2012 . ^ "Uncombable hair syndrome", SpringerReference , Springer-Verlag, 2011, doi : 10.1007/springerreference_42839 ^ a b c "Uncombable hair syndrome" . ... External links [ edit ] Classification D ICD - 10 : Q84.1 ( ILDS Q84.130) OMIM : 191480 MeSH : C536939 DiseasesDB : 32703 External resources Orphanet : 1410 Uncombable hair syndrome at NIH 's Office of Rare Diseases v t e Congenital malformations and deformations of skin appendages Nail disease Anonychia Leukonychia Pachyonychia congenita / Onychauxis Koilonychia Hair disease hypotrichosis /abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis : Zimmermann–Laband syndrome
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. ... Most cases are isolated, but in some cases it has been described in association with other diseases, such as ectodermal dysplasias , Bork syndrome and Angel-shaped phalangoepiphyseal dysplasia . The syndrome has been found to be caused by mutations in the genes PADI3 , TGM3 , and TCHH . These three genes code for proteins that are involved in hair shaft formation. The syndrome appears to be inherited in an autosomal recessive fashion; however, cases inherited in an autosomal dominant manner may also exist, as there are other genes involved in hair formation.
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. ... Differential diagnosis Differential diagnosis includes Rapp-Hodgkin ectodermal dysplasia, loose anagen hair syndrome, ectrodactyly, cleft/lip palate syndrome, familial tricho-odonto-onchyial ectodermal dysplasia with syndactyly and other ectodermal dysplasias.
A number sign (#) is used with this entry because of evidence that uncombable hair syndrome-2 (UHS2) is caused by homozygous mutation in the TGM3 gene (600238) on chromosome 20p13. One such patient has been reported. Description Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. ... Molecular Genetics By whole-exome sequencing in the Turkish patient with uncombable hair syndrome reported by Kilic et al. (2013), who did not have a mutation in the PADI3 gene (606755), U.
A potential complication is the possibility of the individual producing anti-platelet antibodies . [9] Prevalence [ edit ] The frequency of Bernard–Soulier syndrome is approximately 1 in 1,000,000 people. [10] The syndrome, identified in the year 1948, is named after Dr. ... "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)" . ... PMID 17109744 . ^ a b Reference, Genetics Home. "Bernard-Soulier syndrome" . Genetics Home Reference . Retrieved 17 July 2016 . ^ a b Online Mendelian Inheritance in Man (OMIM): GIANT PLATELET SYNDROME - 231200 ^ a b c Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder" . ... PMID 12200373 . ^ "Bernard-Soulier Syndrome; BSS & giant platelet information.
A number sign (#) is used with this entry because of evidence that an autosomal dominant form of Bernard-Soulier syndrome can be caused by heterozygous mutations in the gene encoding platelet glycoprotein Ib-alpha (GP1BA; 606672) on chromosome 17p. Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200). Clinical Features Miller et al. (1992) reported a 2-generation family in which 5 individuals had a moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. ... Molecular Genetics In a Caucasian family in which 5 members over 2 generations were affected with a mild form of Bernard-Soulier syndrome in an unusual autosomal dominant pattern of inheritance, Miller et al. (1992) identified a heterozygous mutation in the GP1BA gene (L57F; 606672.0004). ... However, the results of Savoia et al. (2001) indicated that a subset of patients diagnosed with so-called Mediterranean macrothrombocytopenia may actually have a heterozygous type of Bernard-Soulier syndrome. INHERITANCE - Autosomal dominant HEAD & NECK Nose - Epistaxis Mouth - Gingival bleeding Teeth - Prolonged bleeding after dental extraction ABDOMEN Spleen - Mild splenomegaly GENITOURINARY Internal Genitalia (Female) - Prolonged menstrual periods SKIN, NAILS, & HAIR Skin - Petechiae - Ecchymoses HEMATOLOGY - Large platelets - Asymptomatic bleeding tendencies (petechiae, epistaxis, mucosal bleeding) - Hemolytic anemia - Erythrocyte stomatocytes - Absent neutrophil inclusions LABORATORY ABNORMALITIES - Low-normal platelet count (89-290 x 10(9)/L) - Mean platelet volume (MPV) 12.6fL - Normal platelet aggregation studies with ADP, collagen, and ristocetin MOLECULAR BASIS - Caused by mutation in the glycoprotein Ib, platelet, alpha polypeptide gene (GP1BA, 606672.0006 ) ▲ Close
See also autosomal dominant Bernard-Soulier syndrome (BSSA2; 153670), which can be caused by heterozygous mutation in the GP1BA gene. It is much less common than autosomal recessive Bernard-Soulier syndrome. Description Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). ... Clinical Management In the case of a Swedish patient with Bernard-Soulier syndrome, Waldenstrom et al. (1991) found that the parents had common ancestors in the 17th century. ... In 3 patients with the Bernard-Soulier syndrome, Kunicki et al. (1978) could not detect the platelet membrane receptor for quinidine and quinine-dependent antibodies. ... Stricker et al. (1985) described acquired Bernard-Soulier syndrome in a patient with a lymphoproliferative disorder.
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Other Genes of Interest in the Differential Diagnosis of Thanatophoric Dysplasia View in own window Gene(s) Disorder MOI Features of Differential Diagnosis Disorder Overlapping w/TD Distinguishing from TD CFAP410 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT52 IFT80 IFT81 IFT122 IFT140 IFT172 KIAA0586 KIAA0753 NEK1 TRAF3IP1 TCTEX1D2 TTC21B WDR19 WDR35 Skeletal ciliopathies: incl perinatal lethal short rib-polydactyly syndromes & Jeune asphyxiating thoracic dystrophy (see OMIM PS208500) AR Digenic 1 May be lethal in perinatal period or infancy Narrow thorax & short ribs; short stature & short limbs noted in infancy (But survivors may manifest only mild-to-moderate short stature.)
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. While this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family.
In a survey of lethal osteochondrodysplasias in the county of Fyn (Funen), Denmark, Andersen (1989) found 2 cases of micromelic dysplasia with cloverleaf skull. One, a male, was born of a 49-year-old father and a 39-year-old mother who were not consanguineous. Micromelic bone dysplasia with cloverleaf skull has the same thoracic, pelvic, and spinal radiographic findings as thanatophoric dysplasia (187600) but does not have 'telephone receiver' femora. The micromelia is less severe than in thanatophoric dysplasia. Autosomal recessive inheritance was suggested by Elejalde and de Elejalde (1985). The age of the father in Andersen's case suggests a new dominant mutation.
Description Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. ... This skin disorder also occurs in Crouzon syndrome (123500) when caused by a FGFR3 mutation (134934.0011). ... In the same series, there were 8 cases of achondroplasia (100800) and 1 case each of camptomelic dysplasia (114290), Ellis-van Creveld syndrome (225500), Larsen syndrome (150250), and Langer mesomelic dysplasia (249700).
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence. Signs and symptoms of systemic mastocytosis often include extreme tiredness (fatigue), skin redness and warmth (flushing), nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus (gastroesophageal reflux ), nasal congestion, shortness of breath, low blood pressure (hypotension), lightheadedness, and headache. Some affected individuals have attention or memory problems, anxiety, or depression. Many individuals with systemic mastocytosis develop a skin condition called urticaria pigmentosa, which is characterized by raised patches of brownish skin that sting or itch with contact or changes in temperature.
Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Epidemiology MCM is the most common form of CM (accounting for up to 90% of cases) but the prevalence in the general population is unknown. Incidence has been estimated at between 1/1000 and 1/125 births. This entity is most commonly reported among the Caucasian population and affects both sexes, although a slight male predominance (1.7-1.8:1) has been reported in cases with early onset. Clinical description The majority of patients present in infancy or childhood but onset may also occur in adulthood. As lesions vary in aspect, several subvariants have been described in the past (plaque form, typical form, telangiectatic form, and nodular form) but are all now grouped under the same entity.
Telangiectasia macularis eruptive perstans (TMEP) is a very rare skin disease. Some researchers consider it a rare subtype of cutaneous mastocytosis . The lesions of TMEP typically appear as small, irregular red spots and brown widened blood vessels on the skin (telangiectasia) mostly located on the trunk, legs, and arms in a symmetrical pattern. The palms, soles and face are spared in most cases. In most cases, the lesions are not itchy and do not form blisters. Rarely, there are other symptoms in other parts of the body. Diagnosis is usually based on the features, and confirmed by a skin biopsy.
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea ). ... Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. ... Approximately 100 cases have been reported. Causes KID syndrome is caused by mutations in the GJB2 gene. ... A few families have had a condition resembling KID syndrome with an autosomal recessive pattern of inheritance.
Cerebellar and neuromuscular defects have been reported in a few cases. Etiology KID/HID syndrome is caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. ... Differential diagnosis Differential diagnoses should include diseases belonging to the erythrokeratoderma group, as well as Clouston syndrome and keratosis follicularis spinulosa decalvans (see these terms). ... Genetic counseling Most of the reported cases were sporadic, but familial cases with autosomal dominant inheritance have been reported. A few cases of KID syndrome caused by parental germline mosaicism for the GJB2 gene have also been described. ... Prognosis The prognosis for patients with KID/HID syndrome is variable and, although cases with a fatal outcome are rare, the cutaneous manifestations persist and are generally severe with recurrent infections and an increased risk of mucosal carcinomas.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss. ... Eye problems are caused by keratitis (inflammation of the cornea) which can lead to pain; sensitivity to light; extra blood vessel growth; scarring; and eventual vision loss or blindness. KID syndrome is caused by mutations in the GJB2 gene.
Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. ... The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. ... Walker-Warburg syndrome affects the skeletal muscles , which are muscles the body uses for movement. ... Some individuals with Walker-Warburg syndrome experience seizures. Eye abnormalities are also characteristic of Walker-Warburg syndrome. ... Causes Walker-Warburg syndrome can be caused by mutations in at least a dozen genes.
MEDNIK syndrome Other names Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome MEDNIK syndrome (OMIM#609313) , [1] also known as "syndrome de Kamouraska" (syndrome from Kamouraska), is a genetic disorder that is caused by mutations to the AP1S1 gene. Transmission of the disease is believed to be autosomal recessive . Symptoms of the syndrome are intellectual disability , enteropathy , deafness, neuropathy , ichthyosis , and keratoderma (MEDNIK). [2] [3] The disorder was discovered by Dr. Patrick Cossette and his research team from the Université de Montréal. MEDNIK syndrome was initially reported in a few French-Canadian families near Quebec who all shared common ancestors. [2] MEDNIK syndrome has been shown to create a defect in copper metabolism . ... Treatments can include: diuretics , steroids , pain medications , antidepressants , hydrotherapy , anti-inflammatories , and antibiotics . [4] References [ edit ] Ref Syndrome de Kamouraska: https://sante.canoe.ca/news/chealth/3733? ... "AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism".
A number sign (#) is used with this entry because of evidence that mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) is caused by homozygous mutation in the AP1S1 gene (603531) on chromosome 7q22. Description MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It shows phenotypic similarities to CEDNIK (609528) (summary by Montpetit et al., 2008). Clinical Features Erythrokeratodermia variabilis (EKV; 133200) is a congenital disorder of the skin that causes hyperkeratosis and red patches of variable sizes, shapes, and duration. In 5 children from 3 families originating from the Kamouraska region of the province of Quebec, Saba et al. (2005) described an atypical form of erythrokeratodermia variabilis, designated erythrokeratodermia variabilis-3 (Kamouraska type) and symbolized EKV3.
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). Epidemiology The syndrome has been described in four families descending from limited number of ancestors in Quebec.
The presence of disseminated intravascular coagulation (i.e., in amniotic fluid embolism or HELLP syndrome ) also appears to be a factor in its development. ... This started the initial distinction of Sheehan’s syndrome from Simmonds’ disease (also known as hypopituitarism ). ... OCLC 768527672 . ^ a b Keleştimur F (December 2003). "Sheehan's Syndrome". Pituitary . 6 (4): 181–188. doi : 10.1023/B:PITU.0000023425.20854.8e . ... S2CID 25547320 . ^ a b c d e f g h Schrager S, Sabo L (September 2001). "Sheehan syndrome: a rare complication of postpartum hemorrhage" . ... External links [ edit ] Classification D ICD - 10 : E23.0 ICD - 9-CM : 253.2 MeSH : D007018 DiseasesDB : 11998 External resources MedlinePlus : 001175 eMedicine : med/1914 v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenoma
Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis).
Sheehan syndrome affects the function of the pituitary gland. The pituitary gland makes hormones and regulates other glands and many body processes, including reproduction. The cause of Sheehan syndrome is severe blood loss during or after childbirth (postpartum hemorrhage). This leads to lack of blood flow to the front part of the pituitary gland, causing it to gradually stop functioning. The symptoms of Sheehan syndrome occur as a result of the low hormone levels. ... In some cases, the symptoms occur immediately and may be more severe and sometimes life threatening. Sheehan syndrome is diagnosed based on the symptoms, clinical history and exam, laboratory testing, and imaging studies.
Unsourced material may be challenged and removed. Find sources: "Frey's syndrome" – news · newspapers · books · scholar · JSTOR ( December 2012 ) ( Learn how and when to remove this template message ) Frey's syndrome Other names Auriculotemporal syndrome, Baillarger's syndrome, Dupuy’s syndrome, Frey-Baillarger syndrome Redness associated with Frey's syndrome Specialty Neurology Symptoms Redness and sweating of cheek area when salivating Causes Damage to auriculotemporal nerve Diagnostic method Starch-iodine test Frequency 30–50% (after parotidectomy ) Frey's syndrome (also known as Baillarger's syndrome , Dupuy’s syndrome , auriculotemporal syndrome , [1] or Frey-Baillarger syndrome ) is a rare neurological disorder resulting from damage to or near the parotid glands responsible for making saliva , and from damage to the auriculotemporal nerve often from surgery. [1] [2] The symptoms of Frey's syndrome are redness and sweating on the cheek area adjacent to the ear (see focal hyperhidrosis ). ... Lucja Frey, provided a detailed assessment of the disorder and coined the term "auriculotemporal syndrome" in 1923. [10] References [ edit ] ^ a b "Frey's syndrome" . ... "Graft interposition for preventing Frey's syndrome in patients undergoing parotidectomy" . ... PMID 25781421 . ^ "Frey Syndrome" . NORD (National Organization for Rare Disorders) . Retrieved 2019-01-26 . ^ synd/390 at Who Named It? ^ Frey L (1923). "Le syndrome du nerf auriculo-temporal" [Atriotemporal nerve syndrome].
Frey's syndrome is a rare, neurological disorder that causes a person to sweat excessively while eating. ... The main symptoms include flushing and excessive sweating ( hyperhidrosis ) on the cheek, temple, or behind the ear, when eating or thinking about food ( gustatory sweating ). Some people with Frey’s syndrome may experience a burning sensation, itching, or pain around the affected area. The symptoms are usually mild but can be severe, causing significant discomfort or social anxiety. Frey’s syndrome is thought to be caused by damage to both the nerves that regulate the sweat glands, and the nerves that regulate the parotid glands. It is believed that the damaged nerves regrow abnormally and connect to the wrong glands. Frey’s syndrome is diagnosed based on medical history (e.g. a history of surgery or trauma) and symptoms. ... Of note, although Botox injections have been reported to improve symptoms and quality of life, no randomized controlled trials of its use to treat Frey’s syndrome have been documented.
Mouth and genital ulcers with inflamed cartilage syndrome Other names MAGIC syndrome Specialty Dermatology Mouth and genital ulcers with inflamed cartilage syndrome (also known as "MAGIC syndrome") is a cutaneous condition with features of both Behçet's disease and relapsing polychondritis . [1] [2] Recently there is a question whether these two conditions are linked in the same individual or are two separate disorders. [3] See also [ edit ] Cartilage Nicolau–Balus syndrome List of cutaneous conditions References [ edit ] ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). ... ISBN 978-1-4160-2999-1 . ^ Orme RL, Nordlund JJ, Barich L, Brown T (July 1990). "The MAGIC syndrome (mouth and genital ulcers with inflamed cartilage)". ... "Breaking the Magic: Mouth and Genital Ulcers with Inflamed Cartilage Syndrome" . Cureus . 9 (10): e1743. doi : 10.7759/cureus.1743 .
Lachiewicz–Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. ... Unlike branchio-oto-renal (BOR) syndrome , Lachiewicz–Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis. [1] It was characterized in 1985. [1] See also [ edit ] Branchio-oto-renal syndrome References [ edit ] ^ a b Lachiewicz AM, Sibley R, Michael AF (June 1985). ... PMID 3998953 . v t e Congenital malformations and deformations of face and neck Face jaw : Otocephaly mouth : Macrostomia Microstomia lip : Macrocheilia Microcheilia chin : Microgenia multiple/other: Hallermann–Streiff syndrome Branchial cleft cyst Neck Webbed neck Ungrouped Preauricular sinus and cyst
Cockayne syndrome is a rare disease which causes short stature, premature aging ( progeria ), severe photosensitivity , and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. ... There are three subtypes according to the severity of the disease and the onset of the symptoms: Cockayne syndrome type 1 (type A) , sometimes called “classic” or "moderate" Cockayne syndrome, diagnosed during early childhood Cockayne syndrome type 2 (type B) , sometimes referred to as the “severe” or "early-onset" type, presenting with growth and developmental abnormalities at birth Cockayne syndrome type 3 (type C) , a milder form of the disorder Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes.