X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Epidemiology OPHN1 syndrome is very rare. To date, up to 12 families have been reported. ... Etiology Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Diagnostic methods Neuroradiological findings include posterior vermis dysgenesis, vermian parasagittal cleft, cerebellar hypoplasia, cortical atrophy, and enlargement of the cerebral ventricles.
OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance ( cerebellum ). The syndrome mainly affects males. Signs and symptoms may include intellectual disability, low muscle tone (hypotonia), developmental and cognitive delay , early-onset seizures, abnormal behavior, small or underdeveloped genitals, characteristic facial features (long face, bulging forehead, under eye creases, deep set eyes, and large ears), crossed eyes ( strabismus ) and inability to coordinate movements . ... Treatment is supportive and includes physical, occupational and speech and language therapy. OPHN1 syndrome is caused by mutations in the OPHN1 gene, which is located on the X chromosome.
Al-Owain et al. (2011) reported a Saudi family in which 4 boys and 1 girl had a syndromic form of X-linked mental retardation. ... Philip et al. (2003) identified 2 different mutations in the OPHN1 gene (300127.0002 and 300127.0003) in affected members of 2 unrelated families with syndromic X-linked mental retardation. Zanni et al. (2005) identified 4 different novel mutations in the OPHN1 gene in 2 (12%) of 17 unrelated males with mental retardation and known cerebellar anomalies and in 2 (1%) of 196 unrelated males with X-linked mental retardation without previous brain imaging studies. Retrospective imaging studies, when possible, detected cerebellar hypoplasia in the latter patients, indicating that OPHN1 mutations are associated with a syndromic form of X-linked mental retardation with cerebellar hypoplasia. In affected members of a Saudi family with syndromic X-linked mental retardation, Al-Owain et al. (2011) identified an intragenic 68-kb deletion spanning exons 7 to 15 in the OPHN1 gene (300127.0006).
Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. Congenital insensitivity to pain is caused by mutations in the SCN9A gene and, in rare cases, is caused by mutations in the PMRD12 gene . It is inherited in an autosomal recessive pattern. Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because of evidence that hereditary sensory neuropathy type V (HSAN5) is caused by homozygous mutation in the NGF gene (162030) on chromosome 1p13. For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). Clinical Features Low et al. (1978) reported a 6-year-old child with congenital sensory neuropathy characterized by a selective loss of pain and thermal sensation affecting the extremities. Nerve conduction studies were normal. Small myelinated fibers were selectively reduced in the sural nerve, and unmyelinated fibers were normal. Dyck et al. (1983) reported a girl with congenital insensitivity to pain.
Mutations in the NTRK1 gene have also been implicated in the more severe HSAN subform, HSAN4 (congenital insensitivity to pain with anhidrosis; see this term). Genetic counseling The syndrome is transmitted in an autosomal recessive manner
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation.
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
A number sign (#) is used with this entry because of evidence that alopecia-mental retardation syndrome-1 (APMR1) is caused by homozygous mutation in the AHSG gene (138680) on chromosome 3q27. ... Description Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by Wali et al., 2007). Genetic Heterogeneity of Alopecia-Mental Retardation Syndrome Loci for alopecia-mental retardation syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; 610422) and chromosome 18q11.2-q12.2 (APMR3; 613930). ... Hearing, teeth, nails, bone x-rays, and sweating were normal and the patients were not dysmorphic. The Amish hair-brain syndrome (234050) has mild mental retardation and associated short stature; the affected persons have hair which is brittle and falls out.
For a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 (203650). Clinical Features Wali et al. (2007) reported a consanguineous Pakistani family with autosomal recessive mental retardation associated with generalized alopecia.
For a discussion of genetic heterogeneity of alopecia with mental retardation, see APMR1 (203650). Clinical Features Wali et al. (2006) reported a large consanguineous Pakistani family in which 3 males and 2 females had total alopecia and mild to moderate mental retardation (IQs ranging from 53 to 61). Teeth, nails, sweating, and hearing were all normal. Mapping By genomewide linkage analysis and fine mapping, Wali et al. (2006) identified a 9.6-cM (5.6-Mb) candidate disease locus, termed APMR2, on chromosome 3q26.2-q26.31 between markers D3S1564 and D3S2427 (maximum multipoint lod score of 4.57 with several markers). Further analysis showed that the APMR2 locus is distinct from the nearby APMR1 locus on 3q26.33-q27.3. INHERITANCE - Autosomal recessive SKIN, NAILS, & HAIR Hair - Alopecia, complete NEUROLOGIC Central Nervous System - Mental retardation, mild to moderate MISCELLANEOUS - Genetic heterogeneity, see APMR1 ( 203650 ) ▲ Close
Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss.
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. ... Differential diagnosis The clinical picture is similar to that seen in Richards-Rundle syndrome (see this term). Genetic counseling Transmission may be X-linked recessive.
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia.
Kaler et al. (1992) described 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. ... Kaler et al. (1992) concluded that their disorder is a new autosomal recessive syndrome distinct from type II OI (166210).
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis.
Photographs of the older sister strongly suggested the Marfan syndrome. In both sisters ventriculoatrial or ventriculoperitoneal shunt was required for relief of hydrocephalus.
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip.
In 2 infant sons of first-cousin parents, Beemer and van Ertbruggen (1984) described a lethal syndrome of hydrocephalus, cardiac malformation, dense bones, ambiguous external genitalia and other genital anomalies, thrombocytopenia, and unusual facies, particularly bulbous nose and broad nasal bridge.
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age.
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. ... The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
No deafness was present and lack of limb, hand, dental, and urogenital abnormalities was considered to make Lenz microphthalmia syndrome (309800) unlikely. Although some early reports of 'anophthalmos' were probably instances of Norrie disease (310600), the linkage mapping, if valid, excludes that possibility in this family, since the Norrie disease gene is located at Xp11.4. Forrester et al. (2001) mapped Lenz microphthalmia syndrome, which has many features similar to those in affected members of the family of Graham et al. (1991), to Xq27-q28.
A number sign (#) is used with this entry because maturity-onset diabetes of the young type 8 with exocrine dysfunction (MODY8), also referred to as diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the variable number of tandem repeats (VNTR) of the carboxyl-ester lipase gene (CEL; 114840) on chromosome 9q34. ... Raeder et al. (2006) noted that the phenotype of this syndrome is distinct and includes both FED and diabetes caused by beta-cell failure, although diabetes is diagnosed later in life.
The latter is also known as renal cysts and diabetes syndrome (see this term). At least 9 other genetic subtypes have been described but are very rare.
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-13 (MODY13) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Clinical Features Bonnefond et al. (2012) described a 4-generation French family with 12 members affected with MODY. Age at diagnosis ranged from 13 to 59 years of age. In addition, 1 member had impaired fasting glucose and another had impaired glucose tolerance. No member of the family had neonatal diabetes mellitus (NDM). Yorifuji et al. (2005) described a 4-generation Japanese family with diabetes mellitus.
A number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY11) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23-p22. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Mapping Kim et al. (2004) performed a genomewide scan of 21 extended United States families segregating autosomal dominant maturity-onset diabetes of the young (MODY) not caused by known MODY genes. They found significant linkage to chromosome 8p23 in 6 of the families, with a heterogeneity-adjusted lod score of 3.37 at D8S1130 and nonparametric lod of 3.66 at D8S265 (p = 2 x 10(-5)). Haplotype analysis defined an approximately 2.7-Mb critical interval between markers D8S1706 and D8S1721.
A number sign (#) is used with this entry because the maturity-onset diabetes of the young type 2 (MODY2) is caused by heterozygous mutation in the GCK gene (138079) on chromosome 7p13. Description MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene.
A specific missense mutation in the HNF4A gene (R76W; 600281.0008) causes MODY associated with Fanconi renotubular syndrome-4 (FRTS4; 616026). Clinical Features In their review of MODY, Fajans et al. (2001) stated that, not unexpectedly, the pathophysiologic mechanisms of MODY due to mutations in HNF4A (MODY1) and MODY due to mutations in the HNF1A gene (MODY3; 142410) are very similar since HNF4-alpha regulates the expression of HNF1-alpha.
A number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY10) is caused by heterozygous mutation in the INS gene (176730) on chromosome 11p15.5. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Clinical Features Edghill et al. (2008) described a family with MODY who carried a heterozygous mutation in the INS gene. The proband, her mother, and her maternal grandmother were diagnosed with diabetes at 15, 15, and 65 years of age, respectively. They were nonobese and their diabetes was noninsulin-dependent. The proband was treated with diet alone for 10 years, then oral agents, before starting low-dose insulin; her mother was treated with diet for 40 years before starting oral agents; and her grandmother had been on diet for treatment in the 8 years since diagnosis.
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-14 (MODY14) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Prudente et al. (2015) performed whole-exome sequencing in 60 families in which diabetes was present in at least 3 consecutive generations; a proband and at least 1 first-degree relative were diagnosed with diabetes before age 35 years; diabetes entered the family from only 1 side; and mutations were not identified in the 6 most common MODY genes (HNF4A, 600281; GCK, 138079; HNF1A, 142410; PDX1, 600733; HNF1B, 189907; NEUROD1, 601724). In 2 families, they identified heterozygous mutations in the APPL1 gene: a nonsense mutation (L552X; 604299.0001) in a 4-generation Italian family, and a missense mutation (D94N; 604299.0002) in a 4-generation U.S. family. Functional analysis indicated that both are loss-of-function mutations.
Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to 10 percent of cases.
A number sign (#) is used with this entry because MODY type 4 is caused by mutation in the PDX1 gene (600733), which encodes the insulin promoter factor-1 (IPF1). For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Mutation in the PDX1 gene is a rare cause of MODY (Fajans et al., 2001). In a consanguineous family, originally reported by Wright et al. (1993), in which an infant with pancreatic agenesis (260370) was homozygous for a 1-bp deletion in the PDX1 gene (600733.0001), Stoffers et al. (1997) found that members heterozygous for this mutation had early-onset type II diabetes mellitus, which they designated MODY4. The expression of diabetes in this family may occur at later ages than in families with other types of MODY.
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 6 (MODY6) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics In a family reported by Malecki et al. (1999), members with mutations in the NEUROD1 gene met the diagnostic criteria for MODY including an autosomal pattern of inheritance, onset of diabetes before 25 years of age in 3 carriers, and a requirement for insulin treatment in 5 carriers; see 601724.0002. Pathogenesis In a review of the various forms of MODY, Fajans et al. (2001) suggested that the molecular basis of MODY6 is abnormal transcription/regulation of beta cell development and function.
In contrast to patients with NIDDM, MODY3 patients did not show any features of the insulin resistance syndrome. They could be discriminated from patients with insulin-dependent diabetes mellitus by lack of glutamic acid decarboxylase antibodies. ... Thirty-five percent of cases had insulin resistance; these subjects had the lipid abnormalities seen in the metabolic syndrome. The authors concluded that a defect in insulin secretion is the hallmark in Mexican diabetic patients diagnosed between 20 and 40 years of age.
Maturity-onset diabetes of the young (MODY) is a form of diabetes that is characterized by an early onset diabetes. MODY represents about 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus . It is due to a primary defect in pancreatic β-cell function . There are several MODY subtypes with distinct genetic causes: MODY1, caused by mutations in the HNF4A gene; MODY2 , caused by mutations in GCK gene; MODY3 caused by mutations in the HNFA1 (the most common type); MODY4 caused by mutations in the PDX1 gene; MODY5 caused by mutations in the HNF1B gene; MODY6 caused by mutations in the NEUROD1 gene; MODY7 caused by mutations in the KLF11 gene; MODY8 caused by mutations in the CEL gene; MODY9 caused by mutations in the PAX4 gene; MODY10 caused by mutations in the INS gene; MODY11 caused by mutations in the BLK gene; MODY12 caused by mutations in the ABCC8 gene; MODY13 caused by heterozygous mutation in the KCNJ11 gene; and MODY14 caused by mutations in the APPL1 gene. It is inherited in an autosomal dominant pattern. Treatment depends on the subtype and may include sulfonylureas , insulin or diet and exercise.
A number sign (#) is used with this entry because MODY9 is caused by heterozygous mutation in the PAX4 gene (167413). For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Plengvidhya et al. (2007) screened the PAX4 gene in 46 Thai probands with MODY who did not have mutations in known MODY genes and identified heterozygous mutations in 2 probands (167413.0004 and 167413.0005). Neither mutation was found in 344 controls of Thai origin.
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 7 (MODY7) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. Molecular Genetics Neve et al. (2005) sequenced the KLF11 gene in 190 probands of families with early-onset type II diabetes mellitus and identified a SNP (A349S; 603301.0001) in affected members of a 4-generation family and another SNP (T220M; 603301.0002) in affected members of 2 unrelated multigenerational families. In 1 of the latter families, the T220M variant was not found in a diabetic sib with disease onset at a later age. Neither variant was found in 313 patients with late-onset type II diabetes or in 313 normoglycemic individuals.
Description Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs. ... Hall (1971) classified what he termed the 'syndromes of oromandibular and limb hypogenesis,' which comprised a range of disorders with hypoglossia in common. ... Type IV included intraoral bands with fusion with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type V included several syndromes, such as Hanhart syndrome, Pierre Robin syndrome (261800), Moebius syndrome (157900), and amniotic band syndrome (217100). ... This suggested to them that the aglossia-adactylia syndrome might likewise be the result of vascular occlusion, as in the embryopathy experimentally induced by Jost and Poswillo. ... Thus, it is arguable whether it should be called Hanhart syndrome. Chandra Sekhar et al. (1987) reported with photographs 2 remarkable cases in which micrognathia was extreme.
Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). ... The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
A set of symptoms relating to excessive academic or intellectual pressure in the young Not to be confused with Brain fog . Brain fag syndrome ( BFS ) describes a set of symptoms : somatic, sleep-related and cognitive complaints, difficulty in concentrating and retaining information, head and neck pains, and eye pain. [1] The condition was first described in Nigerian high school and university students in the 1960s. [1] [2] It is considered a culture-bound syndrome caused by excessive pressure to be successful among the young. [3] Contents 1 Classification 2 Causes 3 Treatment 4 Epidemiology 5 History 6 See also 7 References Classification [ edit ] BFS is classified in the fourth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as a culture-bound syndrome . [1] Individuals with symptoms of brain fag must be differentiated from those with the syndrome according to the Brain Fag Syndrome Scale (BFSS); [1] Ola et al said it would not be "surpris[ing] if BFS was called an equivalent of either depression or anxiety". [1] Causes [ edit ] Morakinyo found in 20 people with BFS an achievement drive that was anxiety -related that led to the use of psychostimulants and consequent sleep deprivation which contributed to cognitive disruption. [1] Omoluabi related BFS to test anxiety. [1] Treatment [ edit ] 19th-century American trade card, listing a cure for "brain fag" among other things Anumonye reported treatment success with lorazepam; others found benefit with antidepressants and relaxation exercises. [1] Epidemiology [ edit ] BFS has been reported in other African cultures, [1] and also in Brazil, Argentina, and Ethiopian Jews . [1] Historic higher reported prevalence among males may be due to more males being present in higher education in African countries. [1] Studies since the 1990s have not verified gender differences. [1] Other studies found a possible association with low socioeconomic status , an association with average or higher intelligence, and a high association with neuroticism . [1] Individuals with BFS have been found to have problems with isolation, poor study habits, and the use of psychostimulants as well as physical changes including in muscle tension and heart rate. [1] History [ edit ] The condition was first described by R. ... Prince who named the condition based on the term brain fag used by students who believed their symptoms were attributed to "brain fatigue". [1] However, this term was used in the United States and Europe dating back to 1839. [4] Furthermore, in a detailed historical account, Ayonrinde (2020) [5] illustrates that contrary to widely held and published belief in diagnostic manuals, psychiatric, social science and educational text, the term 'Brain Fag' and associated syndromes of anxiety, affective and somatoform symptoms in student and 'brain worker' populations were first described in nineteenth century Britain (Tunstall, 1850) with dissemination across the British Empire. Ayonrinde concludes that, the time has come for the decolonization of brain fag and its African syndromization in the true spirit of ethical scientific rigour in the twenty-first century. [5] See also [ edit ] Burnout Exhaustion References [ edit ] ^ a b c d e f g h i j k l m n o Ola BA, Morakinyo O, Adewuya AO (May 2009). "Brain Fag Syndrome - a myth or a reality" . Afr J Psychiatry (Johannesbg) . 12 (2): 135–43. doi : 10.4314/ajpsy.v12i2.43731 . ... The Art Journal . 72 : 71. ^ a b Ayonrinde, Oyedeji A. (2020). " ' Brain fag': a syndrome associated with 'overstudy' and mental exhaustion in nineteenth century Britain" .
The deformity is commonly associated with other conditions, most notably Klippel–Feil syndrome , congenital scoliosis , including cervical scoliosis, fused ribs , the presence of an omovertebral bone (an extra bone between the scapula and a cervical vertebra) and spina bifida . ... Contents 1 Presentation 2 Diagnosis 3 Eponym 4 References 5 External links Presentation [ edit ] CT scan showing Sprengel's deformity of the left side (arrow) and fused cervical vertebrae , as seen in Klippel–Feil syndrome The scapula is small and rotated so that its inferior edge points toward the spine. ... This connection is known as an omovertebral bone. [ citation needed ] There is a high correlation between Sprengel's deformity and Klippel–Feil syndrome . [ citation needed ] Diagnosis [ edit ] Sprengel's deformity is inherited in an autosomal dominant manner. ... It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel–Feil syndrome ). Eponym [ edit ] It is named for German surgeon Otto Sprengel , who described it in 1891. [1] [2] References [ edit ] ^ synd/2450 at Who Named It? ... External links [ edit ] Classification D ICD - 10 : Q74.0 ICD - 9-CM : 755.52 OMIM : 184400 MeSH : C535802 C535802, C535802 DiseasesDB : 31521 External resources eMedicine : orthoped/445 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 This genetic disorder article is a stub .
Some of the affected persons showed Klippel-Feil syndrome (118100). Pathogenesis Using Cre-recombinase-mediated transgenesis, Matsuoka et al. (2005) mapped a cryptic neural crest-mesoderm boundary inside the neck and shoulder girdle skeleton in which cellular distributions of neural crest and mesoderm correspond precisely to muscle attachment scaffolds to the shoulder girdle, challenging the 'ossification model' and corroborating the 'scaffold model' of vertebrate neck and shoulder evolution. The skeleton that Matsuoka et al. (2005) identified as neural crest-derived is specifically affected in human Klippel-Feil syndrome, Sprengel deformity, and Arnold-Chiari I/II malformation (207950). ... On this basis, Matsuoka et al. (2005) identified Sprengel deformity, which is one of the phenotypic facets of Klippel-Feil syndrome, as primarily affecting PONC fate choices and not cervical segmentation as had been thought.
A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.
Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported.
This suggests that the term "Burnside-Butler syndrome" should be used with caution, if at all. ... No consistent set of features has been described that would meet the usual criteria for naming a syndrome, and the use of the term is likely to cause confusion. ... "Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome - IOS Press" . Journal of Pediatric Genetics . 3 (1): 41–44. doi : 10.3233/pge-14082 . ... "The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review" . International Journal of Molecular Sciences . 16 (2): 4068–4082. doi : 10.3390/ijms16024068 . ... PMID 25689425 . ^ "OMIM Entry - # 615656 - CHROMOSOME 15q11.2 DELETION SYNDROME" . www.omim.org . Retrieved 2015-10-02 . [ permanent dead link ] ^ a b Ho, Karen S.; Wassman, E.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome involving chromosome 15q11.2. The deleted region spans approximately 300 to 500 kb between breakpoints 1 (BP1) and 2 (BP2) of the Prader-Willi (PWS; 176270)/Angelman syndrome (AS; 105830) critical region. ... See also chromosome 15q11.2 duplication syndrome (608636). Clinical Features Murthy et al. (2007) reported a 3.5-year-old boy with mental retardation who was found to carry a heterozygous 253-kb deletion of chromosome 15q11.2 between BP1 and BP2. ... The 9 patients did not have Prader-Willi or Angelman syndrome. Eight had overlapping and variable features, including general, speech, or motor developmental delay, and abnormal behavior such as autism spectrum disorder, obsessive-compulsive disorder, attention deficit-hyperactivity disorder, and happy demeanor. ... INHERITANCE - Autosomal dominant HEAD & NECK Head - Plagiocephaly Face - Broad forehead Ears - Dysmorphic ears Eyes - Hypertelorism Mouth - Cleft palate CARDIOVASCULAR Heart - Congenital heart defects ABDOMEN Gastrointestinal - Poor feeding SKELETAL Hands - Slender fingers MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Speech delay - Seizures - Dyspraxia - Ataxia - Clumsiness - Sleep disorders Behavioral Psychiatric Manifestations - Autism spectrum disorder - Obsessive-compulsive disorder - Attention deficit-hyperactivity disorder (ADHD) - Happy demeanor MISCELLANEOUS - Variable phenotype - Incomplete penetrance - Deleted region contains 4 genes that are not imprinted, TUBGCP2 ( 608147 ), NIPA1 ( 608145 ), NIPA2 ( 608146 ), and CYFIP1 ( 606322 ) MOLECULAR BASIS - Contiguous gene deletion syndrome caused by deletion of 300 to 500 kb between BP1 and BP2 on 15q11.2 ▲ Close
15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders ; and autism spectrum disorder . Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures.
Hypothenar hammer syndrome Symptoms Pain over the hypothenar eminence especially at the ring finger, though all fingers of the same hand may be affected (thumb is never affected); increased sensitivity to cold and reduced sense of touch in affected digits [1] Risk factors Regular use of vibrating tools (carpenters, mechanics, machinists) and a subset of athletics involving repeated high-impact on the hand (baseball catchers, golfers, karate, volleyball) [1] Treatment Nonoperative: cessation of smoking, avoid recurrent trauma; operative: endovascular fibrinolysis , excision of involved segment and reconstruction with or without a vein graft, and arterial ligation [1] Hypothenar hammer syndrome ( HHS ) is a vascular occlusion in humans in the region of the ulna . ... HHS is a potentially curable cause of Raynaud's syndrome , distinct from hand–arm vibration syndrome . [3] Contents 1 Diagnosis 2 Treatment 3 Epidemiology 4 References Diagnosis [ edit ] A physical examination of the hand may show discoloration (blanching, mottling, and/ or cyanosis ; gangrene may be present in advanced cases), unusual tenderness/ a callous over the hypothenar eminence, and fingertip ulcerations and splinter hemorrhages over ulnar digits; if an aneurysm is present, there may also be a pulsatile mass. ... An angiogram may show a "corkscrew" ulnar artery or an occlusion or aneurysm at the hook of the hamate. [ citation needed ] Treatment [ edit ] Noninvasive treatments have an 80% success rate; surgical options exist for other instances. [1] Epidemiology [ edit ] HHS, though rare, occurs much more frequently in men than in women (9:1) and principally affects those in their 40s and 50s. [ citation needed ] References [ edit ] ^ a b c d Colin Woon. "Hypothenar Hammer Syndrome" . Orthobullets.com. ^ "Hypothenar hammer syndrome" . ^ Cooke, R. A. (2003). "Hypothenar hammer syndrome: a discrete syndrome to be distinguished from hand-arm vibration syndrome" .