Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated
For Tonic tensor tympani syndrome, see Tensor tympani muscle . Twin-to-twin transfusion syndrome Twin-to-twin transfusion syndrome Specialty Perinatology , neonatology Twin-to-twin transfusion syndrome ( TTTS ), also known as feto-fetal transfusion syndrome ( FFTS ), twin oligohydramnios-polyhydramnios sequence ( TOPS ) and stuck twin syndrome is a complication of disproportionate blood supply, resulting in high morbidity and mortality. ... See also [ edit ] Twin anemia-polycythemia sequence Vanishing twin References [ edit ] ^ Zach T, Ford SP. "Twin-to-Twin Transfusion Syndrome" . EMedicine . Retrieved July 22, 2006 . ^ a b Roberts D, Neilson JP, Kilby M, Gates S. (2014) Interventions for the treatment of twin–twin transfusion syndrome. ... PMID 19283655 . ^ Benoit RM, Baschat AA. (2014) Twin-to-twin transfusion syndrome: prenatal diagnosis and treatment. ... Incidence of complications in twin-twin transfusion syndrome after selective fetoscopic laser photocoagulation: a single-center experience. ... "Improving Survival in Twin-Twin Transfusion Syndrome. Contemporary OB/GYN December 2006" (PDF) .
Twin to twin transfusion syndrome (TTTS) is a rare condition that occurs during a twin pregnancy when blood moves from one twin (the “donor twin”) to the other (the “recipient twin”) while in the womb.
A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis.
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow.
The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes. In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (257100), Chediak-Higashi syndrome (214500), and Fanconi pancytopenic syndrome (see 227650). ... One patient developed acute lymphoblastic leukemia at age 7 months, and another developed a myelodysplastic syndrome at age 7 years. Two patients had neurologic involvement, including psychomotor retardation and seizures. ... These studies established a role for mitochondria-dependent apoptosis in the pathogenesis of Kostmann syndrome and yielded a tentative explanation for the beneficial effect of growth factor administration in these patients. Molecular Genetics Autosomal recessive severe congenital neutropenia constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells.
Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis.
Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers).
In a male and female offspring of healthy first-cousin Pakistani parents, Clayton-Smith and Donnai (1989) described a similar pattern of unusual facial features, limb malformations, and postnatal-onset ichthyosis. The male had a small mouth with thin upper lip and a midline groove in the lower lip. In both children the fingers were tapering and lacked distal flexion creases. The daughter had a large gap between the second and third fingers. HEENT - Small mouth - Thin upper lip - Midline groove in lower lip Limbs - Tapered fingers - Distal finger flexion creases absent - Gap between second and third fingers Inheritance - Autosomal recessive Skin - Postnatal-onset ichthyosis ▲ Close
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears.
A number sign (#) is used with this entry because of evidence that microcornea with myopic chorioretinal atrophy and telecanthus is caused by homozygous mutation in the ADAMTS18 gene (607512) on chromosome 16q23. Clinical Features Khan (2012) described 5 boys, ranging in age from 4 to 10 years at presentation, from 4 unrelated consanguineous Saudi Arabian families with microcornea and myopic chorioretinal atrophy. In addition to ocular findings, all 5 boys had telecanthus and posteriorly rotated ears, which were not present in unaffected parents or sibs and were not normative for the ethnic population. Horizontal corneal diameters ranged from 9.8 to 10.5 mm; anterior chambers were not shallow. Three unrelated boys had severe chorioretinal atrophy, whereas 2 affected brothers had milder disease.
Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes.
Clinical Features Kleiner and Holmes (1980) described 2 brothers with bilateral hallux varus. The propositus had clinodactyly of both fifth fingers. Radiographs showed that the first metatarsals and phalanges of both great toes were broad, short, and misshapen. His younger brother had preaxial polysyndactyly of the great toes. Radiographs showed broad, short, and misshapen first metatarsals, duplication of the proximal phalanges, and triplication of the distal phalanges on the right foot and duplication on the left. Neither brother had any other malformations. The parents were not related and showed no skeletal abnormality. Inheritance Kleiner and Holmes (1980) could not establish a pattern of inheritance in the family they reported but considered autosomal dominant inheritance unlikely.
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies.
Flier et al. (1980) described a brother and sister with insulin resistance, acanthosis nigricans, severe muscle cramps, large puffy hands, and enlarged kidneys. The sister had polycystic ovaries with virilization. Following dilantin treatment, the cramps improved dramatically and in the male insulin resistance decreased. The sibship contained 11 children of whom 1 other may have been affected. Inheritance - Autosomal recessive Neuro - Muscle cramps Endo - Insulin resistance Skin - Acanthosis nigricans ▲ Close
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features.
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit.
Van Regemorter et al. (1982) reported polydactyly and ectrodactyly in a sibship of 4 children. One boy and one male twin had postaxial polydactyly, while the male monozygotic cotwin had a lobster-claw deformity of the right foot and the fourth child, a girl, had absence of the phalanges of the right hand. They pointed to one previously reported family as probably identical. Limbs - Polydactyly - Ectrodactyly - Split hand - Split foot - Cleft hand/foot - Postaxial polydactyly - Lobster-claw hand/foot - Absence of phalanges Inheritance - Autosomal recessive ▲ Close
Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.
Among the offspring of unrelated healthy parents, Game et al. (1989) observed 4 fetuses with growth retardation, hydrocephalus with patent aqueduct of Sylvius, micrognathia, hypoplastic multilobed lungs, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias, foot deformities, and other defects. Occurrence in 4 sibs (3 female), including 1 pair of monochorionic diamniotic twins, suggested autosomal recessive inheritance. The diagnosis was made prenatally in all 4 cases, hydrocephalus being the most striking abnormality on ultrasound examination and present as early as the fourteenth week of gestation. Inheritance - Autosomal recessive Abdomen - Omphalocele Skel - Short legs - Bowed tibias - Foot deformities Growth - Prenatal growth retardation HEENT - Hydrocephalus - Patent aqueduct of Sylvius - Micrognathia Pulmonary - Hypoplastic multilobed lungs GI - Intestinal malrotation ▲ Close
A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy.
Otulipenia is characterized by abnormal inflammation throughout the body. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, the uncontrolled inflammation that occurs in otulipenia can damage many of the body's tissues and organs, including the gastrointestinal system, joints, and skin. Disorders such as otulipenia that result from abnormally increased inflammation are known as autoinflammatory diseases. Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen joints; and skin rashes.
A number sign (#) is used with this entry because of evidence that autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is caused by homozygous mutation in the OTULIN gene (615712) on chromosome 5p15. Description Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. ... Clinical Features Damgaard et al. (2016) described 3 patients, 2 sisters and their male cousin, from a highly consanguineous family with a severe inflammatory syndrome evident soon after birth. The infants were born prematurely and exhibited repeated episodes of systemic inflammation with diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia without evidence of infection. ... Damgaard et al. (2016) called the disorder 'OTULIN-related autoinflammatory syndrome (ORAS).' Zhou et al. (2016) described 3 unrelated families segregating an autosomal recessive autoinflammatory disorder which they called 'otulipenia.'
Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation.
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula.
Mononen et al. (1992) suggested X-linked dominant inheritance for a syndrome that had as its most striking feature short, abducted thumbs and markedly short and abducted great toes.
All also had cardiac abnormalities, most commonly sick sinus syndrome with bradycardia, escape beats, and other arrhythmias in the absence of structural abnormalities, except for a patent foramen ovale in 1 patient. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Nystagmus - Retinal degeneration - Abnormal electroretinogram CARDIOVASCULAR Heart - Sick sinus syndrome - Bradycardia - Arrhythmias ABDOMEN Gastrointestinal - Gastric reflux MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Speech delay - Seizures (in some patients) MISCELLANEOUS - Onset in early childhood - Some patients are severely affected with no head control, visual contact, or speech MOLECULAR BASIS - Caused by mutation in the guanine nucleotide-binding protein, beta-5 gene (GNB5, 604447.0001 ) ▲ Close
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea).
Nomenclature Timar et al. (1993) suggested the designation Shokeir syndrome, which should not be confused with the types I and II of Pena-Shokeir syndrome (208150 and 214150, respectively).