Nodulosis–arthropathy–osteolysis syndrome Specialty Dermatology Nodulosis–arthropathy–osteolysis syndrome is a cutaneous condition that shares features with juvenile hyaline fibromatosis . [1] See also [ edit ] Winchester syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Description Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (277950), and NAO syndrome. ... Zankl et al. (2005) considered the absence of subcutaneous nodules to be consistent with Winchester syndrome. The authors noted that the endocrine abnormalities had not previously been reported in association with Winchester syndrome and may be fortuitous, especially as there was a family history for thyroid disease. ... Although Al-Aqeel et al. (2000) suggested that this form of multicentric osteolysis with autosomal recessive inheritance closely resembled the Torg osteolysis syndrome, a unique facial appearance, fibrocollagenous pads, and body hirsutism were not noted in the original description of Torg osteolysis syndrome. ... Evans et al. (2012) stated that the patients reported by Zankl et al. (2005) and Rouzier et al. (2006) had MONA, not Winchester syndrome. In the patient with Torg syndrome reported by Eisenstein et al. (1998), Zankl et al. (2007) identified compound heterozygosity for mutations in the MMP2 gene (120360.0001 and 120360.0005). ... History The 2006 revision of the Nosology of Constitutional Disorders of Bone classified Torg and Winchester syndromes as a single entity with NAO syndrome as a variant (Superti-Furga and Unger, 2007).
Due to overlapping clinical features and the involvement of mutations in MMP2 gene, Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis (NAO) syndromes, that were originally reported separately, are now presumed to belong to the clinical spectrum of MONA (with other nomenclatures still being is use).
MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
Nomenclature In addition to MONA, this phenotype has been reported in the literature as Torg syndrome, Winchester-Torg (or Torg-Winchester) syndrome, and nodulosis-arthropathy-osteolysis (NAO) syndrome. ... Disorders to Consider in the Differential Diagnosis of Multicentric Osteolysis Nodulosis and Arthropathy (MONA) View in own window Differential Diagnosis Disorder Gene MOI Clinical Features of the Differential Diagnosis Disorder Overlapping w/MONA Distinguishing from MONA Juvenile idiopathic arthritis Joint pain, swelling, & stiffness Joint inflammation (tenderness & warmth) ↑ erythrocyte sedimentation rate & C-reactive protein (minimal in some instances) Winchester syndrome (OMIM 277950) MMP14 1 AR Similar phenotype None Multicentric carpal tarsal osteolysis w/ & w/out nephropathy (OMIM 166300) MAFB AD Osteolysis of carpal & tarsal bones Joint swelling Onset in infancy Nephropathy (not always present) Phalanges less affected Hyaline fibromatosis syndrome (OMIM 228600) ANTXR2 AR Skin thickening Coarse facies Osteopenia & osteolysis Similar early manifestations in some Hyaline deposits in papillary dermis & other tissues Pearly papules of face & neck; perianal masses Differing pattern of bone involvement Familial expansile osteolysis (OMIM 174810) TNFRSF11A AD Osteolysis Hearing loss Early loss of dentition Bowing of long bones ↑ serum alkaline phosphatase & urinary hydroxyproline Differing radiographic appearance AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance 1.
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. ... Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for T alipes equinovarus, A trial septal defect, R obin sequence, and P ersistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close ( atrial septal defect ). ... Affected individuals also have persistent left superior vena cava . TARP syndrome has been reported to cause death before birth or soon after birth.
A number sign (#) is used with this entry because of evidence that TARP syndrome is caused by hemizygous mutation in the RBM10 gene (300080) on chromosome Xp11. ... Other possible reports of the syndrome were noted; e.g., Sachtleben (1964) reported 2 brothers with cleft palate, congenital heart disease, and clubfoot. ... Kurpinski et al. (2003) designated this disorder TARP syndrome. Johnston et al. (2010) reported 3 male cousins with Robin sequence, talipes equinovarus, and cardiac defects. ... Inheritance The transmission pattern of TARP syndrome in the 4-generation family studied by Kurpinski et al. (2003) was consistent with X-linked recessive inheritance. ... By whole-exome sequencing in a male proband with TARP syndrome who had an initial tentative diagnosis of atypical orofaciodigital syndrome, Johnston et al. (2014) identified a nonsense mutation (Q150X; 300080.0003) in the RBM10 gene.
The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). ... The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). Rarely, Leigh syndrome can be a manifestation of a mtDNA deletion. ... Pearson syndrome features are variable and progressive. ... Sensorineural hearing loss and retinitis pigmentosa. See Usher Syndrome Type I and Usher Syndrome Type II.
Genetic counseling. NTHL1 tumor syndrome is inherited in an autosomal recessive manner. ... Diagnosis Formal diagnostic criteria for NTHL1 tumor syndrome have not been established. Suggestive Findings NTHL1 tumor syndrome should be suspected in an individual with the following clinical findings, family history, and/or molecular genetic findings on tumor tissue. ... Multiple duodenal polyps were reported in two individuals with NTHL1 tumor syndrome [Weren et al 2015, Fostira et al 2018]. ... Due to the lifelong increased cancer risk and the diversity of tumors associated with NTHL1 tumor syndrome, evaluations for cancer in individuals with NTHL1 tumor syndrome need to be ongoing and comprehensive (see Surveillance). ... The treatment for these cancers in individuals with NTHL1 tumor syndrome is the same as for that of the general population.
Disease characterized by degeneration of tissues beneath the skin Parry–Romberg syndrome Other names Progressive hemifacial atrophy a 17-year-old girl with Parry–Romberg syndrome. ... PMID 22282187 . ^ a b c d e f Gorlin RJ, Cohen MM, Hennekam R (2001). "Chapter 24: Syndromes with unusual facies: well-known syndromes" . Syndromes of the head and neck (4th ed.). ... "Progressive hemifacial atrophy (Parry-Romberg syndrome) report with review of genetics and nosology". ... PMID 6601461 . ^ "Parry Romberg Syndrome" . NORD’s Rare Disease Database .
Clinical Features This syndrome, originally described by Parry (1825) and Henoch and Romberg (1846), consists of slowly progressive atrophy of the soft tissues of essentially half the face, accompanied usually by contralateral Jacksonian epilepsy, trigeminal neuralgia, and changes in the eyes and hair (Walsh, 1939; Wartenberg, 1945). ... The presence of antinuclear antibodies in his serum suggested that the Parry-Romberg syndrome may be a form of localized scleroderma. ... Shah et al. (2003) reported a 7-year-old child with Parry-Romberg syndrome with severe refractory epilepsy, known as epilepsia partialis continua, requiring hemispherectomy. ... Shah et al. (2003) postulated that Parry-Romberg syndrome may share a common autoimmune etiology and pathology with Rasmussen encephalitis. ... However, Echenne and Sebire (2007) noted that there is no conclusive evidence to support an immunologic basis for Parry-Romberg syndrome and cautioned against the use of immunosuppressive therapy in such patients.
Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face.
See also entries for serpentine fibula-polycystic kidney syndrome (102500) and megalocornea-mental retardation syndrome (249310) for descriptions of similar entities. ... Hamel et al. (1995) stated that their cases, the 3 reported by ter Haar et al. (1982), and the patient described by Billette de Villemeur et al. (1992) all had the same syndrome, an autosomal recessive syndrome for which they proposed the name ter Haar syndrome. ... Megarbane et al. (1997) concluded that their 2 patients and the patients described by ter Haar et al. (1982), Billette de Villemeur et al. (1992), and Hamel et al. (1995) all had ter Haar syndrome. Rosser et al. (1996) described 3 patients with features common to serpentine fibula syndrome (SFS; 249420) and Frank-ter Haar syndrome. ... Autosomal recessive inheritance of Frank-ter Haar syndrome was confirmed by Iqbal et al. (2010). ... These 3 original patients had additional findings of congenital glaucoma and heart defects, which were thought to be infrequent manifestations of Melnick-Needles syndrome. Hamel et al. (1995) proposed ter Haar syndrome as distinct from Melnick-Needles syndrome; recessive inheritance, congenital glaucoma, and congenital heart disease distinguish ter Haar syndrome as a unique entity.
Frank–ter Haar syndrome Autosomal recessive is the inheritance pattern of this condition Frank ter Haar-syndrome (FTHS), also known as Ter Haar-syndrome, is a rare disease characterized by abnormalities that affect bone, heart, and eye development. ... Ben ter Haar reported on three similar patients thought to have Melnick–Needles syndrome. [5] Over the next twenty years, several more similar cases were identified and eventually attributed to a new disorder, now called Frank–ter Haar syndrome. ... "Further delineation of Frank-ter Haar syndrome". American Journal of Medical Genetics Part A . 131 (2): 127–33. doi : 10.1002/ajmg.a.30244 . ... "Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?". Journal de génétique humaine . 21 (2): 67–72. PMID 4805907 . ^ ter Haar B, Hamel B, Hendriks J, de Jager J (December 1982). "Melnick-Needles syndrome: indication for an autosomal recessive form".
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea , flattened back of the head, wide fontanels , prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin).
ISBN 978-0-323-05472-0 . [ page needed ] ^ a b Boerhaave syndrome at eMedicine ^ synd/2800 at Who Named It? ... PMID 19932401 . ^ Korn, Owen; Oñate, Juan C.; López, René (2007). "Anatomy of the Boerhaave syndrome". Surgery . 141 (2): 222–8. doi : 10.1016/j.surg.2006.06.034 . ... PMID 16768671 . ^ Curci, Joseph J.; Horman, Marc J. (1976). "Boerhaaveʼs Syndrome. The Importance of Early Diagnosis and Treatment" . ... "Primary esophageal repair for Boerhaave's syndrome whatever the free interval between perforation and treatment" . ... Larrieu, AJ; Kieffer, R (1975). "Boerhaave syndrome: report of a case treated non-operatively" .
According to Soviet psychiatric research, oneiroid syndrome occurs alongside catatonic schizophrenia in the great majority of cases. ... Hallucinogens ( LSD , hashish , ketamine ) and hormonal preparations (for example, corticosteroids ) may cause exogenous oneiroid syndrome. [4] Stages of the oneiroid syndrome [ edit ] Later in 1961 the Bulgarian psychiatrist S. ... "On the peculiarities of the Kandinsky-Clérambault syndrome during the oneiroid-schizophrenic state". ... "Electroencephalographic findings in mental disorders with an oneiroid syndrome". Zhurnal Nevropatologii I Psikhiatrii Imeni S. ... Further reading [ edit ] Kaptsan, A; Miodownick, C; Lerner, V (2000). "Oneiroid syndrome: a concept of use for western psychiatry".
This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female. [2] The disorders that are usually coupled with a female who has vaginal atresia are Rokitansky-Mayer- Küster-Hauser syndrome , Bardet-Biedl syndrome , or Fraser syndrome . [2] One out of every 5,000 women have this abnormality. [3] Contents 1 Symptoms and signs 2 Causes 2.1 Rokitansky-Mayer-Küster-Hauser syndrome 2.2 Bardet-Biedl Syndrome 2.3 Fraser Syndrome 2.4 McKusick-Kaufman syndrome 3 Mechanism 4 Diagnosis 5 Treatment 6 Prognosis 6.1 Rokitansky-Mayer-Küster-Hauser Syndrome 6.2 Bardet-Biedl Syndrome 7 References Symptoms and signs [ edit ] Symptoms and signs in the newborn can be sepsis , abdominal mass , and respiratory distress . ... These disorders are: Rokitansky-Mayer-Küster-Hauser syndrome [ edit ] Rokitansky-Mayer-Küster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be absent or underdeveloped. ... Abnormal androgen production is also induced, eventually leading to hyperandrogenism and Müllerian aplasia. [7] Bardet-Biedl Syndrome [ edit ] Bardet-Biedl syndrome (BBS) is a cliopathic human genetic disorder that can affect various parts of the body. ... Infants born with Fraser syndrome often have eyes that are malformed and completely covered by skin. ... Retrieved 2017-12-27 . ^ "Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes" . www.nlm.nih.gov . Retrieved 2018-01-21 . ^ a b "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)" .
Hajdu–Cheney syndrome is a monogenic disorder. The disorder is inherited and controlled by a single pair of genes. ... PMID 9188663 . ^ Brennan AM, Pauli RM (May 2001). "Hajdu--Cheney syndrome: evolution of phenotype and clinical problems". ... "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss". ... "Mutations in NOTCH2 in families with Hajdu-Cheney syndrome". Human Mutation . 32 (10): 1114–7. doi : 10.1002/humu.21546 . ... Brennan AM, Pauli RM (May 2001). "Hajdu--Cheney syndrome: evolution of phenotype and clinical problems".
The diffuse pattern of resorption has a widely diverse differential diagnosis which includes: pyknodysostosis , collagen vascular disease and vasculitis , Raynaud's neuropathy , trauma, epidermolysis bullosa , psoriasis , frostbite , sarcoidosis , hypertrophic osteoarthropathy , acromegaly , and advanced leprosy . [1] [2] [3] The bandlike pattern of resorption may be seen with polyvinyl chloride exposure and Hadju-Cheney syndrome . [1] A mnemonic commonly used for acro-osteolysis is PINCHFO . [4] P yknodysostosis, P soriasis, I njury (thermal burn, frostbite), N europathy ( diabetes ), C ollagen vascular disease ( scleroderma , Raynaud's), H yperparathyroidism , F amilial (Hadju-Cheney, progeria ), O ccupational (polyvinyl exposure), Acroosteolysis may be associated with minimal skin changes or with ischemic skin lesions that may result in digital necrosis . [5] : 665 See also [ edit ] Nail anatomy References [ edit ] ^ a b Yu, Joseph.
Melkersson–Rosenthal syndrome Other names MRO, Miescher–Melkersson–Rosenthal syndrome [1] This condition is inherited in an autosomal dominant manner. ... The cause of Melkersson–Rosenthal syndrome is unknown, but there may be a genetic predisposition. ... Contents 1 Cause 2 Diagnosis 3 Treatment 4 Prognosis 5 Eponym 6 Research 7 See also 8 References 9 External links Cause [ edit ] Not to be confused with Rosenthal syndrome a.k.a. hemophilia C which is caused by clotting factor XI deficiency. ... Massage and electrical stimulation may also be prescribed. [ citation needed ] Prognosis [ edit ] Melkersson–Rosenthal syndrome may recur intermittently after its first appearance. ... ISBN 978-0-7216-2921-6 . ^ Bakshi SS. Melkersson–Rosenthal Syndrome. J Allergy Clin Immunol Pract. 2017 Mar - Apr;5(2):471-472. doi: 10.1016/j.jaip.2016.09.034 ^ synd/9 at Who Named It?
A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.
Smeets et al. (1994) described a 26-year-old female with typical clinical features of Melkersson-Rosenthal syndrome and a de novo t(9;21)(p11;p11) translocation, and suggested that the gene is located at 9p11. ... Cockerham et al. (2000) reviewed the clinicopathologic features of eyelid involvement in Melkersson-Rosenthal syndrome. The 3 men and 1 woman studied ranged in age from 33 to 74 years. ... Histopathology of each eyelid biopsy in this study revealed granulomatous lymphangitis unique to Melkersson-Rosenthal syndrome. The authors recommended biopsy of all cases of unexplained nonpitting eyelid edema. Caksen et al. (2002) described Melkersson-Rosenthal syndrome in association with Ehlers-Danlos syndrome and found 1 previously reported instance of the association.
Melkersson-Rosenthal syndrome (MRS) is a rare, inherited syndrome that affects the nervous system and skin (a neurocutaneous syndrome). ... It is possible that more than one gene is responsible for MRS, and/or that environmental "triggers" may contribute to causing the syndrome in some genetically predisposed individuals.
ProQuest 1828696754 . ^ Elliott FA. (1984) The episodic dyscontrol syndrome and aggression. Neurologic Clinics 2: 113–25. ^ Maletzky BM. (1973) The episodic dyscontrol syndrome. ... "Episodic dyscontrol syndrome". Archives of Disease in Childhood . 95 (10): 841–842. doi : 10.1136/adc.2009.171850 . ... ProQuest 1828696754 . ^ McTague, A.; Appleton, R. (1 June 2010). "Episodic dyscontrol syndrome". Archives of Disease in Childhood . 95 (10): 841–842. doi : 10.1136/adc.2009.171850 . PMID 20515972 . ^ Tunks ER, Dermer SW. (1977) Carbamazepine in the dyscontrol syndrome associated with limbic system dysfunction. ... The decision in a case concerning episodic dyscontrol syndrome seems to have expanded the definition of "diseases of the mind".
Presumed ocular histoplasmosis syndrome Retinal photograph of ocular histoplasmosis Specialty Ophthalmology Presumed ocular histoplasmosis syndrome ( POHS ) is a syndrome affecting the eye, which is characterized by peripheral atrophic chorioretinal scars, atrophy or scarring adjacent to the optic disc and maculopathy . ... "Disseminated bilateral chorioretinitis due to Histoplasma capsulatum in a patient with the acquired immunodeficiency syndrome". Ophthalmology . 92 (8): 1159–64. doi : 10.1016/s0161-6420(85)33921-0 . ... "Intravitreal anti-vascular endothelial growth factor therapy for choroidal neovascularization secondary to ocular histoplasmosis syndrome". Retina . 32 (3): 468–72. doi : 10.1097/IAE.0b013e318229b220 . ... PMID 16693576 . ^ [1] Presumed Ocular Histoplasmosis Syndrome ^ Stefan Dithmar; Frank Gerhard Holz (28 April 2008). ... "Intravitreal bevacizumab for choroidal neovascularization secondary to presumed ocular histoplasmosis syndrome". Retina (Philadelphia, Pa.) . 29 (10): 1418–23. doi : 10.1097/IAE.0b013e3181babdf1 .
Congenital extreme form of developmental delay and neoteny Neotenic complex syndrome Other names Syndrome X Usual onset Usually detected at or after age 3, but likely present at birth Causes Possibly genetic ( de novo mutations) Frequency Extremely rare: less than 100 confirmed cases worldwide Neotenic complex syndrome ( NCS ) is a syndrome that presents as an extreme form of developmental delay , with the defining characteristic being neoteny of the patient. ... Walker, who discovered several genes implicated in the syndrome. [1] Prior to 2015, when whole genome sequencing was used to identify some genes involved in NCS, the condition was labelled "Syndrome X" when it was first discovered in Brooke Greenberg . ... Not enough research has been conducted, complicated by the rarity of the syndrome. Many genetic differences were noted to be insignificant, and the effects of mutations in some genes are currently beyond scientific understanding. [1] [3] Prominent cases [ edit ] Brooke Greenberg References [ edit ] ^ a b c d Walker, Richard F.; Ciotlos, Serban; Mao, Qing; Chin, Robert; Drmanac, Snezana; Barua, Nina; Agarwal, Misha R.; Rebecca, Yu Zhang; Zhenyu, Li; Ka Yan Wu, Michelle; Sun, Kevin; Lee, Katharine; Nguyen, Staci; Liu, Jia Sophie; Carnevali, Paolo; Drmanac, Radoje; Peters, Brock A. ... "Clinical and genetic analysis of a rare syndrome associated with neoteny" . Genetics in Medicine . 20 (5): 495–502. doi : 10.1038/gim.2017.140 . ... PMID 25991677 . ^ "Whole Genome Sequencing Helps to Redefine a Rare Syndrome Associated with Neoteny" . Genomics , October 5, 2017.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2017 ) Hopkins syndrome Specialty Neurology Hopkins syndrome is a neurological disorder . ... PMID 8394714 . ^ Okayama, A; Hara, H; Shigeto, H; Yamada, T; Kira, J (1999). "A case of Hopkins syndrome with onset at puberty". Rinsho Shinkeigaku . 39 (4): 452–5. ... PMID 10826222 . ^ a b Acharya, AB; Lakhani, PK (1997). "Hopkins syndrome associated with Mycoplasma infection". ... PMID 11197900 . ^ Arita, J; Nakae, Y; Matsushima, H; Maekawa, K (1995). "Hopkins syndrome: T2-weighted high intensity of anterior horn on spinal MR imaging". ... "Poliomyelitis-like illness after acute asthma (Hopkins syndrome): a histological study of biopsied muscle in a case".
A number sign (#) is used with this entry because of evidence that Meckel syndrome type 10 (MKS10) and Joubert syndrome-34 (JBTS34) are caused by homozygous or compound heterozygous mutation in the B9D2 gene (611951) on chromosome 19q13. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Dowdle et al. (2011) reported 2 fetuses with Meckel syndrome who were born in a consanguineous family from Surinam with an Indian-Pakistani background. ... Clinical features included occipital encephalocele, postaxial polydactyly of the hands and feet, renal cysts, and hepatic ductal plate malformations; 1 fetus had anencephaly. Joubert Syndrome 34 Bachmann-Gagescu et al. (2015) described 2 unrelated patients with Joubert syndrome and mutation in the B9D2 gene. ... Disruption of any of the members of this complex can result in Meckel syndrome. Joubert Syndrome 34 In 2 unrelated patients (UW309-3 and UW284-3) with Joubert syndrome, Bachmann-Gagescu et al. (2015) identified homozygous (611951.0002) or compound heterozygous (611951.0003-611951.0004) mutations in the B9D2 gene, respectively.
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. ... Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. ... People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. ... Frequency Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male.
A number sign (#) is used with this entry because androgen insensitivity syndrome (AIS) is caused by mutation in the androgen receptor gene (AR; 313700) on chromosome Xq12. ... Partial androgen insensitivity (PAIS; 312300), also called Reifenstein syndrome, results in hypospadias and micropenis with gynecomastia. Nomenclature The androgen insensitivity syndrome was referred to earlier, in both the human and the mouse, as testicular feminization (TFM). ... Clinical Features Patients with androgen insensitivity syndrome often come to medical attention because of a presumed inguinal hernia. ... Gerli et al. (1979) described a case of complete testicular feminization syndrome in a person with the 47,XXY karyotype.
A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. ... Differential diagnosis Differential diagnoses include 17-beta-hydroxysteroid dehydrogenase deficiency, Leydig cell hypoplasia, XY complete gonadal dysgenesis (Swyer syndrome), 5-alpha-reductase type 2 deficiency and variants of congenital adrenal hyperplasia (see these terms).
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. ... Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.
Michelin tire baby syndrome Specialty Dermatology Michelin tire baby syndrome (also known as Kunze–Riehm syndrome [1] and "folded skin with scarring" [2] : 625 ), is a condition occurring in babies that is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. ... They are reminiscent of those of Bibendum , the mascot of the tire manufacturer Michelin , hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism , cleft palate , genital anomalies, mild developmental delay, ureterocele , smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects. ... "A Rare Case of Michelin Tire Baby Syndrome in a Newborn" . Cureus . 10 (2). doi : 10.7759/cureus.2222 . ... "Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q". ... "Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?". Am J Med Genet . 62 (4): 386–90. doi : 10.1002/(SICI)1096-8628(19960424)62:4<386::AID-AJMG11>3.0.CO;2-K .
A number sign (#) is used with this entry because of evidence that congenital symmetric circumferential skin creases-2 (CSCSC2) is caused by heterozygous mutation in the MAPRE2 gene (605789) on chromosome 18q12. Description Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (156610). Clinical Features Tinsa et al. (2009) described a 9-year-old Tunisian boy, born of consanguineous parents, who had an increased number of deep skin creases of the limbs, mental retardation, seizures, and cleft palate.
Niikawa et al. (1985) reported 2 families with this syndrome. In the first family the trait occurred in 3 generations. ... In describing a 15-month-old girl with this syndrome, Sato et al. (1997) raised the question of a congenital disorder of elastic fiber formation in this condition. ... Elliott et al. (1996) suggested that the patient reported with circumferential skin creases by Cohen et al. (1993) may have had a distinct syndrome because of an unusual pattern of associated congenital anomalies and severe psychomotor retardation. ... Kondoh et al. (2004) suggested that the patient of Elliott et al. (1996) and their patient had a distinct disorder which they suggested be called HITCH syndrome for 'hearing impairment, undescended testis, circumferential skin creases, and mental handicap.'
CSC-KT was originally called the “Michelin tire baby syndrome” because of the similarity of the rings on the arms and legs to the cartoon mascot of the French company.
A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.
Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms). ... These disorders were previously thought to be distinct conditions but represent now three grades of severity in which FCAS and CINCA syndrome are the extremes in a single spectrum of clinical manifestations. ... Some patients with MWS, FCAS or CINCA syndrome may not have mutations in NLRP3 . ... Differential diagnosis Differential diagnosis includes systemic-onset juvenile idiopathic arthritis, rheumatoid arthritis, systemic lupus erythematosus, familial mediterranean fever, Schnitzler syndrome, PLCG2-associated antibody deficiency and immune dysregulation, mevalonate kinase deficiency, TRAPS syndrome (see these terms), acquired cold and common allergic urticaria and serum sickness-like reaction.
Cryopyrin-associated periodic syndrome Other names CAPS [1] Cryopyrin-associated periodic syndrome is autosomal dominant in inheritance Specialty Dermatology , medical genetics Cryopyrin-associated periodic syndrome is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1β -mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. ... "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome" . Nature Genetics . 29 (3): 301–305. doi : 10.1038/ng756 . ... "The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide". ... "A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents". ... Kubota T, Koike R. Cryopyrin-associated periodic syndromes: background and therapeutics.