A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers.
Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds.
Davis et al. (1981) reported a family in which 9 men in 3 generations presented with a slowly progressive spastic quadriparesis and varying degrees of psychomotor retardation. Both features of the syndrome were evident from early in life.
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin).
A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus.
Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations.
Phylloid hypomelanosis Specialty Dermatology Phylloid hypomelanosis is a cutaneous condition, a syndrome occurring in patients with mosaic trisomy 13 or translocation trisomy 13. [1] See also [ edit ] Riehl melanosis List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect).
Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth.
A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.
A number sign (#) is used with this entry because of evidence that brachydactyly type B1 (BDB1) is caused by heterozygous mutation in the ROR2 gene (602337) on chromosome 9q22. Autosomal recessive Robinow syndrome (RRS; 268310) is an allelic disorder; see also 268310 for RRS with severe malformations of the hands and feet. ... In 1 of the BDB1 families with frameshift mutations (602337.0008), Schwabe et al. (2000) reported an individual, born of consanguineous parents with BDB1, who had a phenotype reminiscent of Robinow syndrome with aplasia/hypoplasia of the phalanges and metacarpals/metatarsals (see 268310). ... INHERITANCE - Autosomal dominant SKELETAL Hands - Hypoplastic/aplastic distal phalanges (fingers 2-5) - Hypoplastic middle phalanges (fingers 2-5) - Symphalangism - Broad thumbs - Syndactyly - Camptodactyly Feet - Hypoplastic/aplastic distal phalanges SKIN, NAILS, & HAIR Skin - Cutaneous syndactyly (less common) Nails - Hypoplastic/aplastic fingernails MISCELLANEOUS - Allelic to Robinow syndrome, autosomal recessive ( 268310 ) MOLECULAR BASIS - Caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ROR2, 602337.0001 ) ▲ Close
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten).
For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). Clinical Features In a study of palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten), Gamborg Nielsen (1985) observed a seemingly recessive and unusually severe form that differed from the picture of mal de Meleda (248300) in 6 patients from 2 families. Affected individuals had a very thick horny layer with a distinct demarcation to normal skin, bordered by a bluish-red zone in 4 patients; in 1 patient the hyperkeratosis extended to the dorsum of the hand. Knuckle pads were found on the dorsal finger joints. Three of the patients had dermatophytosis on their soles, and 1 had mutilating palmoplantar keratoderma. Kastl et al. (1990) studied 5 patients from 3 Swedish families with diffuse palmoplantar keratoderma.
Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.
Jeune et al. (1963) described 2 gypsy sibs who, at about 6 years of age, developed a syndrome that included cerebellar ataxia, progressive sensorineural deafness, mental deficiency, and numerous freckles (or lentigines).
Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections.
The authors noted that this patient differed from previously reported patients in that he did not present with the typical clinical signs of respiratory distress syndrome; his initial presentation was severe pulmonary hypertension that appeared to be out of proportion to the degree of lung disease.
In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition.
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.
A number sign (#) is used with this entry because of evidence that leukonychia totalis and/or partialis, referred to here as nonsyndromic congenital nail disorder-3 (NDNC3), can be caused by homozygous or heterozygous mutation in the PLCD1 gene (602142) on chromosome 3p22-p21.3. Description A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by Kiuru et al., 2011). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clincially manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies.
For a general phenotypic description and a discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 (302960). Clinical Features Rittler et al. (1990) described 7 sporadic cases of what appeared to be a new form of chondrodysplasia punctata. Two of the cases had previously been reported by Burck et al. (1980) and Burck (1982). The principal clinical manifestations in all of the patients were flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn were discrete calcific stippling, coronal clefts of vertebral bodies, short tibias, and short second and third metacarpal bones.
The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.
Because of the presence of 2 major malformations and the parental consanguinity, Marles and Chudley (1990) suggested that this may represent a 'new' autosomal recessive malformation syndrome. Cardiac - Endocardial fibroelastosis Limbs - Absent ulnae - Oligodactyly Misc - Hydrops fetalis - Neonatal death Inheritance - ?