A number sign (#) is used with this entry because of evidence that familial episodic pain syndrome-2 (FEPS2) is caused by heterozygous mutation in the SCN10A gene (604427) on chromosome 3p22. Description Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012). For a discussion of genetic heterogeneity of familial episodic pain syndrome, see 615040. Clinical Features Faber et al. (2012) reported a man who developed burning and intense paroxysmal itch in the feet at age 57 years.
Symptoms of psychological disturbance exhibited by officers in military units that suffer heavy casualties The term old sergeant’s syndrome is used to describe symptoms of psychological disturbance exhibited by officers in military units that suffer heavy casualties. ... As a result, they become isolated from the group. [1] In many respects, old sergeant’s syndrome is similar to the phenomenon of burnout as the term has since evolved in the civilian literature . [3] References [ edit ] ^ a b Forsyth, Donelson R. (2018-01-01). ... ISBN 978-1-337-40885-1 – via Google Books. ^ a b Sobel, Raymond (1947-08-01). "The "Old Sergeant" Syndrome". Psychiatry . 10 (3): 315–321. doi : 10.1080/00332747.1947.11022649 .
A number sign (#) is used with this entry because of evidence that structural heart defects and renal anomalies syndrome (SHDRA) is caused by homozygous mutation in the TMEM260 gene (617449) on chromosome 14q22. ... Inheritance The transmission pattern of structural heart defects and renal anomalies syndrome in the families reported by Ta-Shma et al. (2017) was consistent with autosomal recessive inheritance. Molecular Genetics By whole-exome sequencing in 2 unrelated families with structural heart defects and renal anomalies syndrome, Ta-Shma et al. (2017) identified homozygosity for 2 different mutations in the TMEM260 gene (617449.0001 and 617449.0002) that segregated with disease.
If the testes fail to develop within eight weeks, the baby will develop female genitalia (see Swyer syndrome ). If the testes begin to develop but are lost or cease to function between eight and 10 weeks, the baby will have ambiguous genitalia when it is born. ... Terminology [ edit ] Other names for anorchia include congenital anorchia vanishing testes syndrome vanishing testes empty scrotum testicular regression syndrome (TRS) See also [ edit ] Cryptorchidism Monorchism Polyorchidism 46 XX References [ edit ] "Anorchia" . ... External links [ edit ] Classification D ICD - 10 : Q55.0 ICD - 9-CM : 752.89 OMIM : 273250 DiseasesDB : 29633 External resources MedlinePlus : 001185 Orphanet : 325124 v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other Pseudohermaphroditism
The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.
Ming et al. (1997) suggested that the syndrome reported by Cumming et al. (1986) could be expanded to include polysplenia with heterotaxia and that Cumming syndrome may be considered another autosomal recessive condition associated with a laterality defect. ... The clinical and autopsy findings were considered to be consistent with the diagnosis of Cumming syndrome. The first fetus was stillborn at 36 weeks and showed hydrops, cloverleaf skull, and a severely deformed face, with a considerable amount of redundant subcutaneous tissue, massive cervical edema, and microphthalmia. ... Watiker et al. (2005) reported 2 patients originally diagnosed as having Cumming syndrome who were subsequently found to have mutations in the SOX9 gene, prompting reassessment of the cases and reclassification as campomelic dysplasia (114290). Features consistent with Cumming syndrome included campomelia of prenatal onset, cystic hygroma, and a small chest; 1 patient also had a cleft palate and multicystic kidneys, and the other had a complex congenital heart defect. ... Watiker et al. (2005) concluded that the presence of a narrow, tall pelvis, hypoplastic scapulae, and sex reversal are key findings in campomelic dysplasia that allow it to be differentiated from Cumming syndrome. Inheritance Consanguinity in the families with Cumming syndrome reported by Cumming et al. (1986) and Perez del Rio et al. (1999) is consistent with autosomal recessive inheritance.
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Epidemiology The syndrome has been reported in eight infants from four different families.
It also occurs in patients with bone diseases, such as osteomalacia , rheumatoid arthritis , Paget's disease , Ehlers-Danlos syndrome , Marfan syndrome , and osteogenesis imperfecta . Diagnosis [ edit ] Basilar invagination in an infant with Wolf-Hirschhorn syndrome . A doctor will base his or her diagnosis on the symptoms the patient has and the results of tests, including: An X-ray Magnetic resonance imaging (MRI), which usually provides the most information Computed tomography (CT) scan [2] Treatment [ edit ] If there aren't neurological symptoms (such as difficulties moving, loss of sensation, confusion, etc.) and there is no evidence of pressure on the spinal cord, a conservative approach may be taken such as: Drugs, such as aspirin , without steroids to relieve inflammation Cervical traction, in which the neck is pulled along its length, thus relieving pressure on the spinal cord Using a neck collar or cervical-thoracic suit If there is pressure on the spinal cord or life-threatening symptoms are present, surgery is recommended. See also [ edit ] Chiari malformation Syringomyelia Hydrocephalus Rheumatoid arthritis Ehlers-Danlos syndrome Marfan syndrome Dysautonomia References [ edit ] ^ [1] ^ "Archived copy" . ... CS1 maint: archived copy as title ( link ) External links [ edit ] Classification D ICD - 10 : Q75.8 OMIM : 109500 MeSH : C566226 External resources Orphanet : 2285 v t e Congenital malformations and deformations of nervous system Brain Neural tube defect Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation Other Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria Spinal cord Neural tube defect Spina bifida Rachischisis Other Currarino syndrome Diastomatomyelia Syringomyelia
Other features included short neck, craniofacial asymmetry, left Horner syndrome, depressed reflexes in the arms, scoliosis, and lower limb hyperreflexia with extensor plantar responses.
Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.
Oral mite anaphylaxis ( OMA ), also known as pancake syndrome , is a disease in which a person gets symptoms after eating food contaminated with particular mites . ... "Simultaneous oral mite anaphylaxis (pancake syndrome) in a father and daughter and a review of the literature". ... "ADDITIONAL INFORMATION ON THE PANCAKE SYNDROME". Annals of Allergy, Asthma & Immunology . 101 (2): 221. doi : 10.1016/S1081-1206(10)60215-3 . ... "Oral mite anaphylaxis (pancake syndrome) also observed in children". Annals of Allergy, Asthma & Immunology . 96 (5): 755–6. doi : 10.1016/s1081-1206(10)61079-4 . ... Hashizume, H.; Umayahara, T.; Kawakami, Y. (January 2014). "Pancake syndrome induced by ingestion of tempura".
Causes [ edit ] They are mainly observed in the Plummer–Vinson syndrome , [2] which is associated with chronic iron deficiency anemia . One in 10 patients with Plummer-Vinson syndrome will eventually develop squamous cell carcinoma of the esophagus, [3] but it is unclear if esophageal webs in and of themselves are a risk factor. ... The literature describes relations between these webs and Plummer-Vinson Syndrome, bullous dermatologic disorders, inlet patch, graft-versus-host disease and celiac disease. ... "Esophageal web in Plummer-Vinson syndrome". The Laryngoscope . 98 (9): 994–8. doi : 10.1288/00005537-198809000-00014 . ... External links [ edit ] Classification D ICD - 10 : Q39.4 DiseasesDB : 31503 External resources eMedicine : med/3413 v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease
A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. ... In a minority of patients, congenital anomalies such as pelvic kidney, atrial/ventricular septal defects (ASD/VSD), cystocele, urethrocele, thickened aortic valve Individuals with 15q24 microdeletion syndrome have a more heterogeneous phenotype with moderate to severe intellectual disability and additional features depending on the other genes involved in the deletion. Etiology The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A ( SIN3A ; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A . ... Differential diagnosis Most cases are identified using an unbiased diagnostic approach for syndromic forms of neurodevelopmental delay or intellectual disability.
A number sign (#) is used with this entry because of evidence that Meester-Loeys syndrome (MRLS) is caused by mutation in the BGN gene (301870) on chromosome Xq28. ... Nonspecific connective tissue features included pectus deformities, joint hypermobility or contractures, and skin striae, as well as features of Loeys-Dietz syndrome (LDS; see 609192) such as bifid uvula and cervical spine instability. Other unusual features not typically seen in LDS or in Marfan syndrome (MFS; 154700) that were inconsistently observed in these patients included ventricular dilation on brain imaging, relative macrocephaly, hypertrichosis, and gingival hypertrophy, as well as evidence of skeletal dysplasia, including hip dislocation, platyspondyly, phalangeal dysplasia, and dysplastic epiphyses of the long bones. ... Meester et al. (2017) concluded that BGN gene defects in humans cause a syndromic form of severe thoracic aortic aneurysm and dissection, the clinical features of which overlap with those of LDS and MFS patients.
A number sign (#) is used with this entry because of evidence that Lopes-Maciel-Rodan syndrome (LOMARS) is caused by compound heterozygous mutation in the HTT gene (613004) on chromosome 4p16. Clinical Features Lopes et al. (2016) reported an 18-year-old girl with a neurodevelopmental disorder who met diagnostic criteria for Rett syndrome (RTT; 312750). She showed developmental regression around 6 months of age, and developed complex partial seizures around 8 months. ... Two of the sibs had features reminiscent of Rett syndrome. Inheritance The transmission pattern of LOMARS in the family reported by Rodan et al. (2016) was consistent with autosomal recessive inheritance. ... Functional studies of the variants and studies of patient cells were not performed, but Lopes et al. (2016) noted that the HTT gene interacts with MECP2 (300005), which is mutant in Rett syndrome. Mutations in MECP2 were excluded in the patient.
A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. ... Differential diagnosis The primary differential diagnosis is Ondine syndrome, which is defined by a congenital absence of central respiratory control, diffuse involvement of the autonomic nervous system and, in 90% of cases, presence of a PHOX2B mutation. Other diagnoses to be considered include Genetic non-syndromic obesity, Cushing syndrome, a hypothalamic tumor or other conditions with hypothalamic dysfunction, such as Narcolepsy type 1.
"Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review" . ... "Primary Alveolar Hypoventilation Syndrome (Ondine's Curse)". American Journal of Diseases of Children . 110 (2): 155–61. doi : 10.1001/archpedi.1965.02090030165011 . ... Retrieved 2018-06-03 . ^ a b c d e f Reppucci, Diana; Hamilton, Jill; Yeh, E Ann; Katz, Sherri; Al-Saleh, Suhail; Narang, Indra (2016-07-30). "ROHHAD syndrome and evolution of sleep disordered breathing" . ... "Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome" . Pediatric Research . 64 (6): 689–694. doi : 10.1203/PDR.0b013e318187dd0e . ... PMID 18670370 . ^ Kocaay, Pınar; Şıklar, Zeynep; Çamtosun, Emine; Kendirli, Tanıl; Berberoğlu, Merih (December 2014). "ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity" .
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system .
They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). ... Clinical description PNETs, when functional, usually present in the 5th decade of life as various hypersecretion syndromes. These include insulinoma presenting with hyperinsulinemic hypoglycemia; glucagonoma with necrolytic migratory erythema, diabetes mellitus, and thomboembolisms; VIPoma with watery diarrhea, hypokalemia and or hypo/achlorhydia; SSoma with diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria; and ZES with severe peptic ulcer disease. ... PNETs can also be associated with familial endocrine tumor syndromes (10% of cases) such as multiple endocrine neoplasia type 1, neurofibromatosis type 1, and Von Hippel-Lindau disease (see these terms). ... Inactivation of tumor suppressor genes or activation of oncogenes may be causative as seen in familial endocrine tumor syndromes. Diagnostic methods Diagnosis requires clinical examination, endocrine testing, imaging studies and histopathology examination (HPE) of the tumor. ... Differential diagnosis Differential diagnosis is tumor specific and includes endocrine tumor and carcinoid syndrome (see this term). Genetic counseling Most PNETs are sporadic but about 10% are associated with autosomal dominantly inherited endocrine tumor syndromes.
However, about 10% are associated with a hereditary cancer or tumor syndrome such as multiple endocrine neoplasia type 1 (MEN1), which has autosomal dominant inheritance.