Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
Braddock (2003) described 2 sisters with a seemingly distinct multiple malformation syndrome with VATER-like defects. The features of the syndrome included vertebral defects, cardiac abnormalities, pulmonary hypertension, laryngeal webs, blue sclerae, and persistent growth deficiency.
The electrolyte disturbances of the refeeding syndrome can occur within the first few days of refeeding. ... Though Hippocrates misidentifies the exact cause of death, this passage likely represents an early description of refeeding syndrome. [6] The Roman Historian Flavius Josephus writing in the first century described classic symptoms of the syndrome among survivors of the siege of Jerusalem . ... Saunders, Philadelphia, PA. Hearing S (2004). "Refeeding syndrome: Is underdiagnosed and undertreated, but treatable" . ... "The importance of the refeeding syndrome". Nutrition . 17 (7–8): 632–7. doi : 10.1016/S0899-9007(01)00542-1 . ... "Management of the patient with refeeding syndrome". J Infus Nurs . 28 (5): 337–42. doi : 10.1097/00129804-200509000-00007 .
Find sources: "Greater trochanteric pain syndrome" – news · newspapers · books · scholar · JSTOR ( September 2017 ) Greater trochanteric pain syndrome Other names Trochanteric bursitis Greater trochanteric pain syndrome ( GTPS ), is inflammation of the trochanteric bursa , a part of the hip . ... Other causes of trochanteric bursitis include uneven leg length, iliotibial band syndrome , and weakness of the hip abductor muscles . [1] Greater trochanteric pain syndrome can remain incorrectly diagnosed for years, because it shares the same pattern of pain with many other musculoskeletal conditions. ... "Evaluating hip pathology in trochanteric pain syndrome" . The Journal of Musculoskeletal Medicine . ^ a b Williams BS, Cohen SP (2009). "Greater Trochanteric Pain Syndrome: A Review of Anatomy, Diagnosis and Treatment". ... "Managing and preventing hip pathology in trochanteric pain syndrome" . Cite journal requires |journal= ( help ) ^ Clinical trial number NCT01642043 for "Point-of-Care Ultrasound in Greater Trochanteric Pain Syndrome" at ClinicalTrials.gov External links [ edit ] Classification D ICD - 10 : M70.6 ICD - 9-CM : 726.5 v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads
A number sign (#) is used with this entry because of evidence that Noonan syndrome-11 (NS11) is caused by heterozygous mutation in the MRAS gene (608435) on chromosome 3q22. Description Noonan syndrome-11 is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and concomitant cardiac hypertrophy (Higgins et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Clinical Features Higgins et al. (2017) reported 2 patients with a clinical diagnosis of Noonan syndrome with concomitant cardiac hypertrophy who were negative for mutations in known Noonan syndrome genes. ... Suzuki et al. (2019) reported a 2-year-old boy with Noonan syndrome who was born by forceps delivery at 37 weeks to nonconsanguineous Japanese parents. ... Molecular Genetics Higgins et al. (2017) reported 2 patients with Noonan syndrome and concomitant cardiac hypertrophy who carried de novo heterozygous missense mutations in the MRAS gene.
In people with microcephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. ... People with microcephaly-capillary malformation syndrome are born with anywhere from a few to hundreds of these spots, which can occur anywhere on the body. ... Other signs and symptoms of microcephaly-capillary malformation syndrome include abnormal movements, feeding difficulties, slow growth, and short stature. ... Frequency Microcephaly-capillary malformation syndrome is rare. About a dozen people have been diagnosed with the disorder. Causes Microcephaly-capillary malformation syndrome results from mutations in the STAMBP gene.
MIC-CAP syndrome should be suspected in individuals with the following clinical and neuroimaging features: Congenital microcephaly. ... One individual with molecularly proven MIC-CAP syndrome has only moderate developmental delays (see Genotype-Phenotype Correlations). ... Differential Diagnosis Capillary malformation-arteriovenous malformation syndrome (CM-AVM) caused by mutation in RASA1. ... However, several other individuals with MIC-CAP syndrome have been treated with valproic acid without adverse effects. Therefore, it is unclear whether or not an association exists between MIC-CAP syndrome and adverse outcomes with valproic acid therapy.
A number sign (#) is used with this entry because microcephaly-capillary malformation syndrome (MICCAP) is caused by homozygous or compound heterozygous mutation in the STAMBP gene (606247) on chromosome 2p13. Description The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. ... Mirzaa et al. (2011) reported 3 children from 2 unrelated families with what they termed microcephaly-capillary (MIC-CAP) malformation syndrome. Two sibs, born of African American parents, had severe microcephaly (6 to 8 SD below the mean), dysmorphic facial features, and multiple capillary malformations. ... Mirzaa et al. (2011) concluded that this constellation of findings represents a novel autosomal recessive syndrome characterized by severe microcephaly, capillary malformations, and developmental handicap.
Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
A number sign (#) is used with this entry because transient bullous dermolysis of the newborn (TBDN) is caused by heterozygous or compound heterozygous mutation in the COL7A1 gene (120120) on chromosome 7p21. Autosomal dominant and autosomal recessive epidermolysis bullosa dystrophica (131750, 226600) are allelic disorders. Description Transient bullous dermolysis of the newborn is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by Fassihi et al., 2005). Clinical Features Hashimoto et al. (1985) first described this disorder in an African American male delivered by cesarean section who developed large bullae on his extremities and in other friction areas soon after birth.
Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Epidemiology Prevalence is unknown. Less than 30 cases have been reported to date. Clinical description The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Healing of blisters is associated with mild, mostly atrophic, scarring and milia formation. Disease activity usually ceases within the first 6 to 24 months of life.
A number sign (#) is used with this entry because the Torrance type of platyspondylic lethal skeletal dysplasia can be caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13. Clinical Features Horton et al. (1979) described an infant (their patient 11) with a form of platyspondylic lethal skeletal dysplasia (PLSD) that they designated the Torrance type (PLSDT). Radiologically, the Torrance variety is characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping. Histologically, the growth plate appeared relatively normal. The resting cartilage appeared hypercellular with large chondrocytes. Winter and Thompson (1982) described another form of platyspondylic lethal skeletal dysplasia, which they called the Luton type (PLSDL), in a stillborn male infant.
Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.
Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis ). Infants with this condition are born with a small chest with short ribs that can restrict the growth and expansion of the lungs. As a result of these serious health problems, some affected fetuses do not survive to term.
Clinical Features Teebi et al. (1995) presented the cases of a woman and her daughter with an apparently 'new' short stature syndrome associated with facial and skeletal anomalies and hypernasality. ... The morphology of the nose and the hypernasality suggested the velocardiofacial syndrome (192430), but resolution banding and fluorescence in situ hybridization showed no evidence of a 22q11 deletion. Features resembling Aarskog syndrome (305400) and Robinow syndrome (180700) were pointed out.
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence.
AREDYLD syndrome AREDYLD syndrome is inherited in an autosomal recessive manner AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes . ... It was characterized in 1983. [1] A second case was identified in 1992. [2] References [ edit ] ^ Pinheiro M, Freire-Maia N, Chautard-Freire-Maia E, Araujo L, Liberman B (1983). "AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations". ... "Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome". Am J Med Genet . 44 (3): 374–7. doi : 10.1002/ajmg.1320440321 .
AREDYLD, the acronym derived from the main features of a syndrome described by Pinheiro et al. (1983) and used by them as its name, comes from acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes.
A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( July 2013 ) Summer penile syndrome (also known as 'Lions Mane Penis') [1] is a seasonal pediatric medical condition characterized by redness, swelling ( edema ), and itching ( pruritus ) of the penile skin. [2] Contents 1 Cause 2 Treatment 3 References Cause [ edit ] Summer penile syndrome is usually caused by chigger bites on the penis. [2] Majority of cases occur in the summer months, with the clothing associated with warmer weather making penis-arachnid contact more likely. [1] Treatment [ edit ] This section is empty. You can help by adding to it . ( March 2018 ) References [ edit ] ^ a b "PEM Currents >> Summer Penile Syndrome" . Retrieved 15 July 2013 . ^ a b Smith, GA; Sharma, V; Knapp, JF; Shields, BJ (April 1998). "The summer penile syndrome: seasonal acute hypersensitivity reaction caused by chigger bites on the penis".
Lethal congenital contracture syndrome 11 (LCCS11) is a severe disorder characterized by congenital (present at birth) contractures. ... Treatment is supportive and may include tracheostomy due to the respiratory problems and a feeding tube for nutrition. Lethal congenital contracture syndrome 11 is a subtype of the lethal congenital contracture syndromes , which are classified under the arthrogryposis syndromes.
For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). Clinical Features Maluenda et al. (2016) studied 4 families with lethal congenital arthrogryposis in 6 affected individuals.
Femur-fibula-ulna syndrome Other names Femur-fibula-ulna complex Specialty Orthopedic Femur-fibula-ulna syndrome (FFU syndrome) is a very rare syndrome characterized by abnormalities of the femur (thigh bone), fibula (calf bone) and the ulna (forearm bone).
Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.
Neither familial occurrence nor associated exogenous factors have been identified. When cases of femoral defects associated with malformations of the arms are collected, a highly specific pattern of rare arm defects are found, such as amelia, peromelia at the lower end of the humerus, humeroradial synostosis, and defects of the ulna and ulnar rays (Kuhne et al., 1967). This disorder of the femurs has been called PFFD (proximal focal femoral deficiency) in this country (Aitken, 1969) and is probably heterogeneous. Lenz (1977) stated that he had collected more than 350 cases and found no familial occurrence or parental consanguinity. Lenz et al. (1993) analyzed 491 cases; only 1 family had 2 affected sibs.
Central pain syndrome (CPS) is a rare neurological disorder caused by damage to or dysfunction of the pain-conducting pathways of the central nervous system (in the brain, brainstem, and spinal cord). ... Many different names have been used for this disorder, including Dejerine-Roussy syndrome, thalamic pain syndrome, central post-stroke syndrome and others.
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. Epidemiology Fewer than 40 cases have been reported to date. Clinical description DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. ... A less severe, intermediate form has been described and is known as iDEND (see this term). Etiology DEND syndrome is caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. ... Genetic counseling The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive.
A number sign (#) is used with this entry because of evidence that permanent neonatal diabetes mellitus can be caused by homozygous mutation in the glucokinase gene (GCK; 138079), by heterozygous mutation in the KCNJ11 (600937) gene, or by heterozygous or homozygous mutation in the ABCC8 (600509) and INS (176730) genes. Pancreatic agenesis, which results in exocrine pancreatic deficiency as well as permanent neonatal-onset diabetes mellitus, can be caused by mutation in the PDX1 gene (600733). Pancreatic agenesis associated with cerebellar agenesis (609069) can be caused by mutation in the PTF1A gene (607194). Pancreatic agenesis associated with congenital cardiac defects (600001) can be caused by mutation in the GATA6 gene (601656). Description Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000).
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.