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Lmna-Related Cardiocutaneous Progeria Syndrome
Orphanet
LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy.
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Proximal 16p11.2 Microduplication Syndrome
Orphanet
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
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Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome
Orphanet
Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities.
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Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
Orphanet
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy).
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17q23.1q23.2 Microdeletion Syndrome
Orphanet
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. ... Patients had some mild and unspecific dysmorphic facial features. Etiology The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2.
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16p13.11 Microdeletion Syndrome
Orphanet
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. ... Variable congenital anomalies can also be observed. Etiology This syndrome is caused by an interstitial deletion encompassing 16p13.11.
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Thoracic Insufficiency Syndrome
Wikipedia
Thoracic insufficiency syndrome Specialty Pulmonology Thoracic insufficiency syndrome is the inability of the thorax to support normal respiration . [1] It is frequently associated with chest and/or spinal abnormalities. Treatment options are limited, but include supportive pulmonary care and surgical options ( thoracoplasty and/or implantation of vertical expandable prosthetic titanium rib (VEPTR) devices). [2] [3] References [ edit ] ^ The Characteristics of Thoracic Insufficiency Syndrome Associated with Fused Ribs and Congenital Scoliosis; Campbell, R.
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Secretan's Syndrome
Wikipedia
Secretan's syndrome Specialty Psychiatry Secretan's syndrome is a rare condition of hard edema and traumatic hyperplasia of the back of the hand. ... References [ edit ] ^ Reading, George (1980). "Secretan's syndrome: Hard edema of the dorsum of the hand".
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Nevus Comedonicus Syndrome
Wikipedia
Nevus comedonicus syndrome Specialty Dermatology Nevus comedonicus syndrome is a skin condition characterized by a nevus comedonicus associated with cataracts , scoliosis , and neurologic abnormalities. [1] : 635 [2] : 776 [3] : 849 See also [ edit ] Epidermal nevus syndrome Cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005).
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Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Orphanet
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. ... One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. Etiology The syndrome is caused by mutations in the PTF1A gene (10p12.3). Antenatal diagnosis Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. Genetic counseling The syndrome is transmitted as an autosomal recessive disorder.
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Noonan-Like Syndrome With Loose Anagen Hair
Gard
Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome ( macrocephaly , high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing).
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Acth-Independent Cushing Syndrome
Orphanet
A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).GNAS, ARMC5, GCGR, POMC, PRKAR1A, PDE11A, AVP, MC2R, EDNRA, GPRC6A, LPAR2, CXCR6, CLASP2, VN1R17P, LPAR3, SPINK4, LGR6, ACKR3, MRGPRX1, FZD4, DOT1L, MRGPRX3, MRGPRX4, GPR151, OXER1, CCN5, ADRA1A, SSTR4, GIPR, ADRA2B, SERPINC1, BRS3, EPHA3, GABBR1, GAPDH, GIP, GPR42, SCG5, NR3C1, HTR4, LHCGR, MEN1, MLN, PRKACA, ADRA2A, GPR166P
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Branchioskeletogenital Syndrome
Orphanet
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias.
- Deafness-Infertility Syndrome Orphanet
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Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Syndrome
Gard
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability.
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Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Orphanet
Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission.
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Mitf-Related Melanoma And Renal Cell Carcinoma Predisposition Syndrome
Orphanet
MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size.
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Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Orphanet
Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia.
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Richieri Costa-Da Silva Syndrome
Orphanet
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency.
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Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome
Orphanet
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia.