Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth.
All 4 sibs also had supernumerary teeth, from 1 to 7 in number, that developed approximately 4 years after the permanent dentition and were located lingually and occlusally to the normal permanent teeth in the incisor, canine, and premolar regions. The syndrome in this family had previously been designated 'Kreiborg-Pakistani syndrome' (Cohen and MacLean, 2000).
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-5 (COXPD5) can be caused by homozygous mutation in the MRPS22 gene (605810) on chromosome 3q23. For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). Clinical Features Saada et al. (2007) reported 3 sibs, born of consanguineous parents, with antenatal onset of a severe mitochondrial disorder. Late in gestation, ultrasound showed generalized edema, especially of the neck, labia, and palms, with prominent subcutaneous edema and ascites at birth. Laboratory investigations showed severe lactic acidemia and increased serum ammonia.
Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.
Four family members had been diagnosed with irritable bowel syndrome although they did not meet strict criteria for diagnosis; however, 5 other cases did meet the criteria. ... INHERITANCE - Autosomal dominant ABDOMEN External Features - Meteorism (gaseous distention of the stomach or intestine) Gastrointestinal - Diarrhea, chronic, early-onset mild - Abdominal pain (in some patients) - Dehydration in infancy (in some patients) - Metabolic acidosis in infancy (in some patients) - Electrolyte disturbances in infancy (in some patients) - Small-bowel obstruction due to volvulus (in some patients) - Small-bowel obstruction due to adhesions (in some patients) - Small-bowel obstruction due to ileal inflammation (in some patients) - Crohn disease (in some patients) - Irritable bowel syndrome (in some patients) - Esophagitis, with or without esophageal hernia (in some patients) GENITOURINARY Ureters - Urolithiasis (in some patients) METABOLIC FEATURES - Metabolic acidosis in infancy (in some patients) - Electrolyte disturbances in infancy (in some patients) LABORATORY ABNORMALITIES - Vitamin B12 deficiency (in some patients) MOLECULAR BASIS - Caused by mutation in the guanylate cyclase 2C gene (GUCY2C, 601330.0001 ) ▲ Close
Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia.
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas.
A rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 20, with a highly variable phenotype typically characterized by global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (e.g. autism spectrum disorder behaviors) and hand and feet skeletal malformations.
Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly).
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis).
Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.
Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others.
Hypertrichosis simplex of the scalp Specialty Dermatology Hypertrichosis simplex of the scalp is a cutaneous condition caused by defects in the corneodesmosin protein. [1] See also [ edit ] Hairy elbow syndrome List of cutaneous conditions List of conditions caused by problems with junctional proteins References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Acute pediatric pancreatitis may also be associated with systemic disease (e.g., hemolytic uremic syndrome ). If left untreated acute pancreatitis can progress to the chronic form which is more persistent and involves inflammation and scarring of the pancreas.
The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia . Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination ( ataxia ) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected. The area of the brain controlling balance and movement decreases in size ( cerebellar atrophy ). This can be seen on brain imaging . The ataxia usually slowly worsens over time.
It comprises SCA13, SCA14, SCA15, SCA16, SCA27, and SCA28. [4] Type 2/3 [ edit ] Type II ADCA is composed of SCA7 and syndromes associated with pigmentary maculopathies. [4] SCA7 is a disease that specifically displays retinal degeneration, along with the common degeneration of the cerebellum . ... External links [ edit ] Classification D ICD - 10 : G11.1 External resources Patient UK : Autosomal dominant cerebellar ataxia Orphanet : 99 Scholia has a topic profile for Autosomal dominant cerebellar ataxia . v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
Photoleukomelanodermatitis of Kobori Specialty Dermatology Photoleukomelanodermatitis of Kobori is a cutaneous condition, a dyschromic drug eruption that occurs after ingestion of afloqualone, thiazides or tetracyclines, followed by exposure to sunlight. [1] See also [ edit ] Leukotriene receptor antagonist-associated Churg–Strauss syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).