-
Cognitive Function 1, Social
Omim
Turner syndrome is a sporadic disorder of females in which all or part of one X chromosome is deleted. ... Skuse et al. (1997) considered that it should be possible to identify the effects of an X-linked imprinted locus by comparing classes of females with Turner syndrome. In 70% of monosomic (45,X) Turner syndrome females, the single X chromosome is maternal in origin; in the remainder it is paternal. ... In a study of 80 females with Turner syndrome and a 45,X karyotype, they found that 55 had their X chromosome from the mother and 25 from the father. ... Theirs was the fourth documented case of maternal inheritance of the syndrome and autistic disorder. Individuals with Turner syndrome have a spectrum of anatomic, physiologic, and behavioral phenotypes with expressivity dependent on the extent of monosomy and the parental origin of the single X chromosome (Ranke and Saenger, 2001). As noted, parent-of-origin influences on social cognition in Turner syndrome may be due to the presence of imprinted genes on the X chromosome (Skuse et al., 1997).
-
Keratolysis Exfoliativa
Wikipedia
See also [ edit ] Acrokeratoelastoidosis of Costa Peeling skin syndrome List of cutaneous conditions References [ edit ] ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). ... External links [ edit ] [1] v t e Disorders of skin appendages Nail thickness: Onychogryphosis Onychauxis color: Beau's lines Yellow nail syndrome Leukonychia Azure lunula shape: Koilonychia Nail clubbing behavior: Onychotillomania Onychophagia other: Ingrown nail Anonychia ungrouped: Paronychia Acute Chronic Chevron nail Congenital onychodysplasia of the index fingers Green nails Half and half nails Hangnail Hapalonychia Hook nail Ingrown nail Lichen planus of the nails Longitudinal erythronychia Malalignment of the nail plate Median nail dystrophy Mees' lines Melanonychia Muehrcke's lines Nail–patella syndrome Onychoatrophy Onycholysis Onychomadesis Onychomatricoma Onychomycosis Onychophosis Onychoptosis defluvium Onychorrhexis Onychoschizia Platonychia Pincer nails Plummer's nail Psoriatic nails Pterygium inversum unguis Pterygium unguis Purpura of the nail bed Racquet nail Red lunulae Shell nail syndrome Splinter hemorrhage Spotted lunulae Staining of the nail plate Stippled nails Subungual hematoma Terry's nails Twenty-nail dystrophy Hair Hair loss / Baldness noncicatricial alopecia : Alopecia areata totalis universalis Ophiasis Androgenic alopecia (male-pattern baldness) Hypotrichosis Telogen effluvium Traction alopecia Lichen planopilaris Trichorrhexis nodosa Alopecia neoplastica Anagen effluvium Alopecia mucinosa cicatricial alopecia : Pseudopelade of Brocq Central centrifugal cicatricial alopecia Pressure alopecia Traumatic alopecia Tumor alopecia Hot comb alopecia Perifolliculitis capitis abscedens et suffodiens Graham-Little syndrome Folliculitis decalvans ungrouped: Triangular alopecia Frontal fibrosing alopecia Marie Unna hereditary hypotrichosis Hypertrichosis Hirsutism Acquired localised generalised patterned Congenital generalised localised X-linked Prepubertal Acneiform eruption Acne Acne vulgaris Acne conglobata Acne miliaris necrotica Tropical acne Infantile acne / Neonatal acne Excoriated acne Acne fulminans Acne medicamentosa (e.g., steroid acne ) Halogen acne Iododerma Bromoderma Chloracne Oil acne Tar acne Acne cosmetica Occupational acne Acne aestivalis Acne keloidalis nuchae Acne mechanica Acne with facial edema Pomade acne Acne necrotica Blackhead Lupus miliaris disseminatus faciei Rosacea Perioral dermatitis Granulomatous perioral dermatitis Phymatous rosacea Rhinophyma Blepharophyma Gnathophyma Metophyma Otophyma Papulopustular rosacea Lupoid rosacea Erythrotelangiectatic rosacea Glandular rosacea Gram-negative rosacea Steroid rosacea Ocular rosacea Persistent edema of rosacea Rosacea conglobata variants Periorificial dermatitis Pyoderma faciale Ungrouped Granulomatous facial dermatitis Idiopathic facial aseptic granuloma Periorbital dermatitis SAPHO syndrome Follicular cysts " Sebaceous cyst " Epidermoid cyst Trichilemmal cyst Steatocystoma simplex multiplex Milia Inflammation Folliculitis Folliculitis nares perforans Tufted folliculitis Pseudofolliculitis barbae Hidradenitis Hidradenitis suppurativa Recurrent palmoplantar hidradenitis Neutrophilic eccrine hidradenitis Ungrouped Acrokeratosis paraneoplastica of Bazex Acroosteolysis Bubble hair deformity Disseminate and recurrent infundibulofolliculitis Erosive pustular dermatitis of the scalp Erythromelanosis follicularis faciei et colli Hair casts Hair follicle nevus Intermittent hair–follicle dystrophy Keratosis pilaris atropicans Kinking hair Koenen's tumor Lichen planopilaris Lichen spinulosus Loose anagen syndrome Menkes kinky hair syndrome Monilethrix Parakeratosis pustulosa Pili ( Pili annulati Pili bifurcati Pili multigemini Pili pseudoannulati Pili torti ) Pityriasis amiantacea Plica neuropathica Poliosis Rubinstein–Taybi syndrome Setleis syndrome Traumatic anserine folliculosis Trichomegaly Trichomycosis axillaris Trichorrhexis ( Trichorrhexis invaginata Trichorrhexis nodosa ) Trichostasis spinulosa Uncombable hair syndrome Wooly hair nevus Sweat glands Eccrine Miliaria Colloid milium Miliaria crystalline Miliaria profunda Miliaria pustulosa Miliaria rubra Occlusion miliaria Postmiliarial hypohidrosis Granulosis rubra nasi Ross’ syndrome Anhidrosis Hyperhidrosis Generalized Gustatory Palmoplantar Apocrine Body odor Chromhidrosis Fox–Fordyce disease Sebaceous Sebaceous hyperplasia
-
Mecp2 Disorders
Gene_reviews
The spectrum of MECP2 -related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. ... Suggestive Findings in Males MECP2 disorders should be considered in a male with severe neonatal encephalopathy; pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome; or syndromic/nonsyndromic intellectual disability. ... In males the spectrum ranges from severe neonatal encephalopathy, to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome, to severe syndromic/nonsyndromic intellectual disability. ... Most (but not all) affected children have acquired microcephaly; stereotypic hand movements and breathing irregularities are seen in the majority. Variant Rett syndrome. Females with variant Rett syndrome exhibit a broader spectrum of clinical features than those observed in classic Rett syndrome. ... The severe encephalopathy phenotype appears to be rare in females [Lugtenberg et al 2009]. X-linked ID and PPM-X syndrome. PPM-X syndrome, caused by the p.
-
Patellofemoral Pain Syndrome
Wikipedia
For other uses, see Runner's knee . Patellofemoral pain syndrome Other names Patellar overload syndrome, runner's knee, [1] retropatellar pain syndrome [1] Diagram of the bones of the lower extremity. ... "Management of patellofemoral pain syndrome" . American Family Physician . 75 (2): 194–202. ... "Special tests in the clinical examination of patellofemoral syndrome" . Doctors Lounge . 09 (8): 287 . ... "Females with patellofemoral pain syndrome have weak hip muscles: a systematic review" . ... "Evidence Based Conservative Management of Patello-femoral Syndrome" . The Archives of Bone and Joint Surgery . 2 (1): 4–6.
-
Restless Legs Syndrome
Wikipedia
PMID 30806821 . ^ a b "How Is Restless Legs Syndrome Treated?" . NHLBI . November 1, 2010. ... "Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health". ... New evidence for reduced leg oxygen levels in restless legs syndrome. Neurology, 82, e185. https://doi.org/10.1212/WNL.0000000000000513 ^ "Restless legs syndrome" . ... "A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13". ... "The Treatment of Restless Legs Syndrome and Periodic Limb Movement Disorder" .BTBD9, MEIS1, PTPRD, TF, POMC, DRD3, MAP2K5, SNCA, PRKN, MFN2, LRRK2, PARK7, FTL, HTRA2, VPS13C, DNAJC6, ATXN7, LINC02086, PINK1, UCHL1, RLS1, CASC16, PODXL, MYT1, LINC02520, LINC01478, CCDC148, SKOR1, HMOX1, TOX3, DRD2, VDR, MAOA, RLS3, CHM, FXYD1, TH, CHMP2B, SLC11A2, ATXN1, HAMP, GABRR3, RLS4, RLS6, NTS, ADH1B, HMOX2, CRP, GABRA4, FXN, EEF1A2, DMRT1, KNG1, IL1B, HFE, MPZ, MAOB, NOS1, ATXN3, ZC4H2, MIXL1, REEP1, AVP, PCDHA3, MOCOS, FAT2, GABRR2, NANS, SLC25A37, ATL1, PYCARD, GCH1, FMR1, C3, TRAPPC6B, CAD, TMPRSS6, DRD4, GLO1, C9orf72, DBP, MIR122, LINC00423, MIR330, RLS2, CPT1B, CHKB, RLS5, KCTD18, NPAS2, SPATS2L, MCF2L, NKX2-1, TFRC, IL17A, TRA, AFP, SLC6A3, SLC1A2, L1CAM, ATXN2, LRP2, TSPAN31, REN, LY6E, SMCP, SERPINA1, TNF, TYMS, IGLC2, SCAF11, CNTN3, HNMT, ZEB2, IGHA1, LITAF, SLC9A3R2, APLN, UTRN, RNMT, GEMIN2, ATRN, FGF23, NR4A3, IGKC, TBP
-
Pachyonychia Congenita
Wikipedia
Before the genetic basis of Pachyonychia congenita was identified and described, the disease was historically divided into the following sub-types: [8] : 510 Pachyonychia congenita type I (also known as "Jadassohn–Lewandowsky syndrome" [9] ) is an autosomal dominant keratoderma that principally involves the plantar surfaces, but also with nails changes that may be evident at birth, but more commonly develop within the first few months of life. [8] : 510 [9] [10] : 569 Pachyonychia congenita type II (also known as "Jackson–Lawler pachyonychia congenita" and "Jackson–Sertoli syndrome") is an autosomal dominant keratoderma presenting with a limited focal plantar keratoderma that may be very minor, with nails changes that may be evident at birth, but more commonly develop within the first few months of life. [8] [10] : 569 Clinical Diagnosis [ edit ] In order to clinically diagnose pachyonychia congenita, the clinical triad of toenail thickening, plantar keratoderma, and plantar pain must be present. ... External links [ edit ] Classification D ICD - 10 : Q84.5 ( ILDS Q84.520), ( ILDS Q84.530) ICD - 9-CM : 703.8 757.5 OMIM : 167210 167200, 167210 MeSH : D009264 DiseasesDB : 32826 SNOMED CT : 39427000 External resources eMedicine : derm/812 Orphanet : 2309 GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita OMIM: 260130 Pachyonychia congenita recessive 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 v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
-
Osteochondrodysplasia
Wikipedia
It is caused by a contiguous gene duplication or deletion syndrome in which multiple genes are involved. ... The skull is often, but not necessarily, affected, and any other bone(s) can be involved. [ citation needed ] Langer-Giedion syndrome [ edit ] Main article: Langer-Giedion syndrome Langer-Giedion syndrome is a very rare genetic disorder caused by a deletion of chromosomal material. Diagnosis is usually made at birth or in early childhood.The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. Maffucci syndrome [ edit ] Main article: Maffucci syndrome Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas . ... Patients are normal at birth and the syndrome manifests during childhood and puberty. ... It may result from Gaucher disease . [9] Kashin–Beck disease Melnick–Needles syndrome Ovine chondrodysplasia Diagnosis [ edit ] This section is empty.TRPV4, FLNA, COL2A1, HSPG2, TRAPPC2, THRA, SLC10A7, COL9A1, COL11A1, DLL3, GLB1, VEGFA, ADAMTSL2, CHST3, SOST, PISD, BCL2, KDR, FLT1, FGFR3, TGFB2, TGFBR1, ATF2, RUNX2, CTSK, SLC26A2, LIFR, LEMD3, ALG9, KIF22, PTH1R, DYM, GDF5, DMP1, PEX19, TYROBP, IFT80, PEX12, PEX13, PEX14, PHYH, PEX2, TCOF1, TACR3, CTSA, PTEN, PROK2, NLRC4, ACTB, WDR19, PEX5, TRIP11, PEX3, DCHS1, IFT172, NSMF, POLR1D, FLRT3, DYNC2LI1, TREM2, B4GALT7, IL17RD, SEC23A, SEMA3A, WDR60, SF3B4, ABCC9, SEC24D, CHD7, IFT140, POLR1C, PEX26, PEX16, RECQL4, HS6ST1, PEX7, WDR11, FGF17, HESX1, PEX11B, ANKH, PEX10, SOX10, PEX6, IDUA, WDR34, TMEM67, GNAS, GLI3, GJA1, PEX1, SLC39A13, NLRP3, FGFR1, FGF8, PROKR2, ERF, DUSP6, DCC, COL3A1, CEP120, CDH3, BMPR1B, CCDC141, FEZF1, ALDH3A2, AKT1, ACTG1, HBB, ENPP1, KISS1R, KRAS, TTC21B, NOTCH2, SPRY4, DYNC2H1, LMX1B, NEU1, KCNJ8, P4HB, FAT4, ANOS1, IHH, SHOX, RMRP, COMP, CSGALNACT1, FLNB, MATN3, COL10A1, EBP, PGM3, ACAN, NPR2, XYLT1, NPPC, MAB21L2, POP1, GH1, COL9A2, GOLGB1, CSF1R, EXTL3, SOX9, SMARCAL1, MIR140, RSPRY1, SBDS, DDRGK1, CYP26B1, NANS, SH3PXD2B, AMER1, GNPTAB, TAPT1, SGMS2, IARS2, FGD3, ACP5, AFF4, B3GAT3, NEK1, NAGLU, MATN1, LTBP3, LFNG, IGF1, HSPA9, GYPE, GYPB, GYPA, GALNS, FZD2, FBN1, COL11A2, COL1A1, BMP2, BGLAP, NKX3-2, ATF4, ALPL, ACVR1, NTRK1, ROR2, PDE4D, EIF2AK3, C2CD3, NEPRO, SMUG1, SLC35A3, SLC35D1, TRAPPC2B, FST, MMDK, KIAA0753, EFTUD2, PRKAR1A, PAPSS2, CCN6, MBTPS1, CHST1, TRPS1, STAT1, SLC13A1, PTHLH, PTH, THRA1/BTR
-
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome
Orphanet
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis.
-
Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome
Orphanet
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly.
-
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orphanet
Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
-
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Orphanet
Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability.
-
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Orphanet
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus).
-
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Orphanet
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip).
-
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Orphanet
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother.
-
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Orphanet
Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
-
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Orphanet
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth).
-
Infantile Spasms-Broad Thumbs Syndrome
Orphanet
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms.
-
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Orphanet
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit.
-
Painful Orbital And Systemic Neurofibromas-Marfanoid Habitus Syndrome
Orphanet
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.
-
Mandibulofacial Dysostosis-Macroblepharon-Macrostomia Syndrome
Orphanet
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border.