Melanoma-associated leukoderma Specialty Dermatology Melanoma-associated leukoderma is a cutaneous condition, and is a vitiligo -like depigmentation that can occur in patients with cutaneous or ocular melanoma. [1] See also [ edit ] Pallister–Killian syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males.
CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).
Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin).
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly.
A number sign (#) is used with this entry because of evidence that autosomal dominant thrombocytopenia-6 (THC6) is caused by heterozygous mutation in the SRC gene (190090) on chromosome 20q12. One such family has been reported. Description Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. Clinical Features Turro et al. (2016) reported 9 individuals from a 3-generation family with thrombocytopenia and increased bleeding.
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity.
Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia).
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia).
An association of anal atresia with penoscrotal inversion ('shawl scrotum') and hypospadias in males or with biseptate uterus in females is common for persons with distal deletion of 13q, but relatively uncommon for persons with normal karyotype. Bartsch et al. (1996) described 2 unrelated males with malformations of the anogenital region and deletions of 13q32.2qter and 13q32q34, respectively. Bartsch et al. (1996) concluded that segment 13q32.2q34 must harbor one or more developmental genes that produce anogenital anomalies due to the loss of normal homozygosity. Deletion of the same segment of chromosome 13 has been found in other patients with these abnormalities (Carmichael et al., 1977; Vittu et al., 1989; Brown et al., 1993).
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies.
Trisomy 2 mosaicism is a rare chromosome disorder characterized by having an extra copy of chromosome 2 in a proportion, but not all, of a person’s cells. Many cases of trisomy 2 mosaicism result in miscarriage during pregnancy. In infants born with trisomy 2 mosaicism, severity as well as signs and symptoms vary widely. Features of trisomy 2 mosaicism may include intrauterine growth restriction (IUGR), any of various birth defects, distinctive facial features, growth delay, developmental delays, and intellectual disabilities. However, children with trisomy 2 mosaicism with no significant medical problems have been reported (although long-term follow-up was not available).
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
Form of holoprosencephaly resulting in a single nostril Cebocephaly Cebocephaly in two unrelated infants as a result of 18p- syndrome Cebocephaly (from Greek kebos , monkey + kephale , head) is a developmental anomaly, part of a group of defects called holoprosencephaly .
Cat scratch disease (CSD) is a bacterial infection that primarily affects the lymph nodes. It is typically caused by the bacteria bartonella ( Bartonella henselae ). It is usually transmitted by being scratched or bitten by a cat, but rarely, no scratch or bite is involved. Symptoms frequently include the formation of a small bump at the site of the scratch or bite, followed by fever and swollen lymph nodes (lymphadenopathy) within 1-3 weeks. Lymphadenopathy commonly resolves on its own within a few months, but in some cases it may persist for up to 2 years.
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency.
Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism). The spleen plays an important role in the immune system. This organ is part of the lymphatic system, which produces and transports fluids and immune cells throughout the body. The spleen produces certain immune system cells called phagocytes that help remove bacteria from the blood in order to prevent infections. The spleen also stores particular blood cells that fight foreign invaders until they are needed and filters old blood cells for removal.
Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011).
Isolated congenital asplenia Other names ICAS Isolated congenital asplenia is a rare disease in humans that can cause life-threatening bacterial infections in children due to primary immunodeficiency . [1] [2] [3] [4] The infections can include pneumococal sepsis and meningitis . [2] [5] ICAS is a ribosomopathy , [6] due to autosomal dominant mutation of the RPSA gene on chromosome 3p 21. [4] [7] Unlike heterotaxy syndrome , [8] the absent spleen (asplenia) is not associated with other structural developmental defects. [3] [4] In some cases the spleen is present, but very small and nonfunctional (hyposplenism). [9] Immunodeficiency [ edit ] The spleen is an organ within the lymphatic system and its primary function is to filter blood.
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities.
Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Epidemiology The syndrome has been described in a large consanguineous Arab Muslim family.
A number sign (#) is used with this entry because of evidence that one form of autosomal recessive spondyloepimetaphyseal dysplasia is caused by homozygous mutation in the matrilin-3 gene (MATN3; 602109) on chromosome 2p24. One such family has been reported. Clinical Features Borochowitz et al. (2004) described a large consanguineous Arab Muslim family with autosomal recessive spondyloepimetaphyseal dysplasia. Affected individuals presented with disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis, and normal hands. Skeletal findings included short, wide, and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones, and flat, ovoid vertebral bodies. Molecular Genetics In affected members of a consanguineous Arab family segregating SEMD, Borochowitz et al. (2004) identified homozygosity for a cys304-to-ser mutation in the MATN3 gene (602109.0005).
Nomenclature Feingold (2006) and Saul et al. (2006) discussed the need for a more appropriate and precise term for this syndrome, perhaps based on the histology or biochemistry of the disorder.
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed.
Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100, Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC).