A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.
A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others.
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.
Clinical Features Gunal et al. (2005) described an apparently new form of sclerosing dysplasia of bone in 3 adult sisters in a family from Northern Syria. The parents, 2 sisters, 5 brothers, and 22 nephews and nieces showed no signs of the disorder. The ages of the patients at the time of report were 35, 41, and 48 years. Signs of the disease appeared approximately 15 years after puberty. The main complaints were swelling of the limbs and occasional mild pains in the legs. The skin showed scaly changes like those of ichthyosis vulgaris (146700).
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.
The authors suggested that this was a hitherto undescribed autosomal or X-linked recessive syndrome. The second-born infant had marked ascites and hepatosplenomegaly.
A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.
A number sign (#) is used with this entry because of evidence that inflammatory bowel disease-25 (IBD25) is caused by homozygous mutation in the IL10RB gene (123889) on chromosome 21q22. Another form of early-onset inflammatory bowel disease, IBD28 (613148), is caused by mutation in the IL10RA gene (146933) encoding the IL10R1 protein which, together with the IL10R2 protein encoded by IL10RB, forms the heterotetrameric IL10 (124092) receptor. For a general description and discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis, see IBD1 (266600). Clinical Features Glocker et al. (2009) reported a brother and sister from a consanguineous Turkish family, who presented in the first year of life with cutaneous folliculitis, proctitis, perianal abscesses, enterocutaneous fistulas, and, in the girl, rectovaginal fistula. Both sibs underwent multiple surgical interventions, including bowel resections, colostomy, and ileostomy.
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.
Tolmie et al. (1988) described a syndrome of palmoplantar keratoderma, dystrophy of the fingernails, and hereditary motor and sensory neuropathy in 10 members of 4 generations. ... Both the palmoplantar keratodermas and the hereditary and motor sensory neuropathies show extensive genetic heterogeneity. The syndrome reported by Tolmie et al. (1988) is another example of this heterogeneity.
A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.
A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
They compared the tetrasomy phenotype with that of Shprintzen-Goldberg syndrome (182212) and found that the facial gestalt was different. ... Levy et al. (2012) noted clinical similarity between tetrasomy 15q26, Shprintzen-Goldberg syndrome, and Loeys-Dietz syndrome (see 609192) and recommended that all 3 of these syndromes be included in the differential diagnosis.
A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.
A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.
A number sign (#) is used with this entry because of evidence that ovarian dysgenesis-4 (ODG4) is caused by homozygous mutation in the MCM9 gene (610098) on chromosome 6q22. For a general phenotypic description and a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). Clinical Features Wood-Trageser et al. (2014) described 3 affected individuals from 2 unrelated consanguineous Kurdish families with ovarian dysgenesis. In the first family, 2 sisters had hypergonadotropic primary amenorrhea, short stature, low weight, and a normal 46,XX karyotype. Estradiol levels were low, whereas luteinizing hormone (LH; see 152780) and follicle-stimulating hormone (FSH; see 136530) levels were high.
A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.
A number sign (#) is used with this entry because of evidence that retinal dystrophy and iris coloboma with or without congenital cataract (RDICC) is caused by heterozygous mutation in the MIR204 gene (610942) on chromosome 9q21. One such family has been reported. Clinical Features Conte et al. (2015) reported a 5-generation British family segregating autosomal dominant nonsyndromic retinal dystrophy with iris coloboma. The proband was an 18-year-old male who was diagnosed with retinal dystrophy and bilateral iris coloboma in early childhood. Examination revealed reduced visual acuity (less than 20/100 bilaterally), significantly reduced color vision, and bilateral iris colobomata with iridolenticular adhesions. Funduscopy showed scattered mottling of the retinal pigment epithelium with retinal atrophy and attenuation of the retinal vasculature.
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
Spinocerebellar Ataxia with Epilepsy Winterthun et al. (2005) reported 4 unrelated families with a recessively inherited ataxia syndrome characterized by onset of headaches and/or seizures in childhood or adolescence (range 5 to 17 years). ... Hakonen et al. (2005) referred to this disorder as 'mitochondrial spinocerebellar ataxia-epilepsy syndrome' (MSCAE) or 'mitochondrial recessive ataxia syndrome' (MIRAS). ... Bird and Shaw (1978) noted some phenotypic similarities to the Ramsay-Hunt syndrome (159700) and dentatorubral degeneration (DRPLA; 125370).
Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia.
A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.
A number sign (#) is used with this entry because of evidence that GPI biosynthesis defect-1 (GPIBD1) is caused by homozygous mutation in the PIGM gene (610273) on chromosome 1q23. Description Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly.
MEN type 2A (Sipple syndrome) Other names MEN2 Bilateral pheochromocytomas associated with Multiple endocrine neoplasia type 2 Specialty Oncology Multiple endocrine neoplasia type 2 (also known as " Pheochromocytoma and amyloid producing medullary thyroid carcinoma", [1] "PTC syndrome," [1] and "Sipple syndrome" [1] ) is a group of medical disorders associated with tumors of the endocrine system . ... Causes [ edit ] The table in the multiple endocrine neoplasia article lists the genes involved in the various MEN syndromes. Most cases of MEN2 derive from a variation in the RET proto-oncogene , and are specific for cells of neural crest origin. ... Other diseases, such as Hirschsprung disease , result from loss-of-function variants. OMIM # 164761 lists the syndromes associated with the RET gene. ... A table in the multiple endocrine neoplasia article compares the various MEN syndromes. MEN2 and MEN1 are distinct conditions, despite their similar names. ... Henry Ford Hosp Med J 37(3-4):147-150 ^ Jabbour SA, Davidovici BB, Wolf R (2006) Rare syndromes. Clin Dermatol 24(4):299-316 External links [ edit ] MEN2 (RET) gene variant database GeneReview/NIH/UW entry on Multiple Endocrine Neoplasia Type 2 Classification D ICD - 10 : D44.8 ICD - 9-CM : 258.02 OMIM : 171400 MeSH : D018813 DiseasesDB : 7984 External resources MedlinePlus : 000399 eMedicine : med/1520 GeneReviews : Multiple Endocrine Neoplasia Type 2 v t e Disorders involving multiple endocrine glands Autoimmune polyendocrine syndrome APS1 APS2 Carcinoid syndrome Multiple endocrine neoplasia 1 2A 2B Progeria Werner syndrome Acrogeria Metageria Woodhouse–Sakati syndrome v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B
Description Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see 171400)/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). ... Lore et al. (2001) concluded that MEN2 syndromes may be associated with renal malformations.
There are a few syndromes like the Freeman-Sheldon and Gordon syndrome, which have craniofacial involvement. [4] The amyoplasia form of arthrogryposis is sometimes accompanied with a midline facial hemangioma . [4] Arthrogryposis is not a diagnosis but a clinical finding, so this disease is often accompanied with other syndromes or diseases. ... PMID 15730903 . INIST : 16634238 . ^ Gordon Syndrome Archived September 27, 2007, at the Wayback Machine ^ "Archived copy" . ... CS1 maint: archived copy as title ( link ) ^ Reference, Genetics Home. "Sheldon-Hall syndrome" . Genetics Home Reference . Retrieved 2019-09-12 . ^ Arthrogryposis Multiplex Congenita, Neurogenic Type - What does AMCN stand for? ... "Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families". ... External links [ edit ] Classification D ICD - 10 : Q74.3 ICD - 9-CM : 728.3 , 754.89 OMIM : 108110 108120 208100 301830 601701 208200 108200 301830 208155 601680 108145 208085 MeSH : D001176 DiseasesDB : 31688 External resources eMedicine : ped/142 v t e Diseases of joints General Arthritis Monoarthritis Oligoarthritis Polyarthritis Symptoms Joint pain Joint stiffness Inflammatory Infectious Septic arthritis Tuberculosis arthritis Crystal Chondrocalcinosis CPPD (Psudogout) Gout Seronegative Reactive arthritis Psoriatic arthritis Ankylosing spondylitis Other Juvenile idiopathic arthritis Rheumatoid arthritis Felty's syndrome Palindromic rheumatism Adult-onset Still's disease Noninflammatory Hemarthrosis Osteoarthritis Heberden's node Bouchard's nodes Osteophyte 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
Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to muscle atrophy . Signs and symptoms of AMCN vary. AMCN can affect upper and lower joints, including the wrists, elbows, fingers, knees, ankles, and hip. In AMCN, arthrogryposis occurs as a result of the abnormal development of cells in the spinal cord (anterior horn cells) or brainstem (motor nuclei). AMCN often occurs sporadically (in a person with no family history of the condition), however families with multiple affected members have also been reported.
History Like the terms 'cerebral palsy' and 'autism,' the term 'arthrogryposis' refers not to a distinct syndrome or single entity, but instead to a symptom complex that, in the case of the neurogenic type of AMC, is characterized by congenital contractures.
Etiology Genetic forms of generalized lipodystrophy (or Berardinelli-Seip syndrome, see this term) result, in most cases, from recessive mutations in one of two genes: either BSCL2 coding seipin or BSCL1 coding AGPAT2, an acyltransferase involved in triglyceride synthesis. The origin of acquired generalized lipodystrophy (Lawrence syndrome, see this term) is unknown but the syndrome is sometimes associated with signs of autoimmunity. ... Acquired partial lipodystrophy (Barraquer-Simons syndrome, see this term) is characterized by cephalothoracic fat loss. ... Highly active antiretroviral treatments for HIV infection are currently the most frequent cause of acquired secondary lipodystrophic syndromes. Diagnostic methods The genetic diagnosis is performed in specialized laboratories and, in the most severe forms, antenatal diagnosis may be proposed.
Porcine stress syndrome , also known as malignant hyperthermia or PSS, is a condition in pigs. ... Conari Press. pp. 42–43. ^ a b Porcine Stress Syndrome expert reviewed and published by Wikivet accessed 09/10/2011.