Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain.
Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. ... Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Epidemiology This syndrome has been reported in two sibs.
Ward et al. (1992) described a sister and brother with upper limb defects, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. Height and weight were below the third percentile. The girl had a hypoplastic right thumb, poorly developed antihelix of the right ear, and cataract in the right eye. The boy, in addition to hypoplastic left thumb and poorly developed antihelix of the left ear, had bilateral cryptorchidism. The parents were unrelated. GU - Cryptorchidism Neuro - Developmental delay Inheritance - Autosomal recessive Limbs - Hypoplastic thumb Eyes - Bilateral choroid coloboma - Cataract Growth - Height and weight below third percentile Ears - Central hearing loss - Poorly developed antihelix ▲ Close
This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. Epidemiology The syndrome has been described in three siblings.
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. ... Etiology Pathogenesis and cause of this syndrome are unknown. Genetic counseling Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.
Clinical Features Cherstvoy et al. (1980) referred to a case reported by workers in Kiel and described an apparently identical case of a syndrome of phocomelia, thrombocytopenia, encephalocele and urogenital abnormalities. They called it the 'DK phocomelia syndrome' from the surname of the 2 patients. Bird et al. (1994) described a female fetus with manifestations of DK phocomelia syndrome (occipital encephalocele, cleft palate, absence of the left radius and digits 1 and 2 of the left hand, single horseshoe kidney, anal atresia, abnormal branching of coronary arteries, abnormal lobation of the lungs) and diaphragmatic agenesis. ... Descriptive data were presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. Bermejo-Sanchez et al. (2011) also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia (see 601360), another rare severe congenital limb defect. ... Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement.
DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull ( encephalocele ), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia).
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies.
Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia.
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-36 (MRT36) is caused by homozygous mutation in the ADAT3 gene (615302) on chromosome 19p13. Clinical Features Alazami et al. (2013) reported 8 consanguineous Arab families from various geographic regions in which multiple individuals had mental retardation that was often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and mild brain abnormalities on MRI, such as dilated ventricles or delayed myelination. El-Hattab et al. (2016) reported 15 individuals from 11 apparently unrelated Arab families with features similar to those of the patients reported by Alazami et al. (2013). All of the patients had moderate to severe intellectual disability, and most had strabismus, growth failure, and brain abnormalities on neuroimaging.
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows.
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures.
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-41 (MRT41) is caused by homozygous or compound heterozygous mutation in the KPTN gene (615620) on chromosome 19q13. Clinical Features Baple et al. (2014) reported 9 individuals from 4 nuclear Anabaptist Amish families from Ohio with autosomal recessive mental retardation. The patients had global developmental delay, mildly delayed walking, high levels of anxiety, stereotyped behavior, and repetitive speech. Dysmorphic features included macrocephaly (+3 to +5.4 SD) with frontal bossing, craniosynostosis, scaphocephaly, broad nasal bridge, hooded eyelids with small, downslanting palpebral fissures, and a prominent chin. Three patients had a seizure disorder, and 6 had childhood hypotonia.
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men.
Diethylstilbestrol syndrome (DES syndrome) refers to developmental or health problems caused by exposure to DES before birth (in utero), such as reproductive tract differences, infertility, and an increased risk for certain cancers.
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia.
Some patients with a similar phenotype have larger deletions of chromosome 1p32-p31, including the NFIA gene; this disorder thus represents a contiguous gene deletion syndrome. Clinical Features Rao et al. (2014) reported an 8-year-old girl with BRMUTD. ... Variable dysmorphic features included overgrowth, bilateral proximally placed first fingers, facial asymmetry, downslanting palpebral fissures, and low-set ears. Chromosome 1p32-p31 Deletion Syndrome Lu et al. (2007) reported 5 patients, including 2 half sibs, with a similar neurologic phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay. ... Labonne et al. (2016) reported follow-up of a 22-year-old woman (DGDP005) with chromosome 1p32 deletion syndrome who was originally reported by Zinner and Batanian (2003). ... Lu et al. (2007) noted the phenotypic similarities to Nfia loss of function in the mouse and suggested that haploinsufficiency of the NFIA gene contributed to the malformation syndrome in these patients. In a 6-month-old girl with macrocephaly, hypoplasia of the corpus callosum, and ventriculomegaly, Koehler et al. (2010) identified a 4.93-Mb deletion on the short arm of chromosome 1: del(1)(p32.2-p31.3), which deleted 16 genes, including the NFIA gene.
Marshall–White syndrome Specialty Dermatology Marshall–White syndrome is a skin condition that consists of Bier spots associated with insomnia and tachycardia . [1] : 820 See also [ edit ] Skin lesion References [ edit ] ^ James, William D.; Berger, Timothy G.; et al. (2006).
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Wolf-Hirschhorn (194190) and Smith-Lemli-Opitz (270400) syndromes were excluded by cytogenetic, molecular, and biochemical studies. Ellis et al. (1996) considered this complex to be a 'new' syndrome with presumably autosomal recessive inheritance.
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth).
In 2 sisters and a boy born of consanguineous parents, Grubben et al. (1992) demonstrated an apparently new syndrome of pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, small and puffy hands and feet, small and widely spaced teeth, eczematous skin, and, in one of the sisters and the boy, partial agenesis of the corpus callosum.
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure).
Saito et al. (1989) described 2 sibs, a male and female born of a nonconsanguineous, relatively young couple, with a lethal acrorenal developmental complex. Both died of respiratory failure in the neonatal period. Radiologic features were symmetric mesomelic shortness of the limbs, fibular agenesis, oligosyndactyly, micrognathia, and hypoplastic ulna. The ears were abnormally formed, and the kidneys were cystic or hypoplastic. Some of the features, such as malformed ears and respiratory failure, are consistent with Potter sequence; however, the disorder appeared to be different from previously described forms of fibular aplasia/hypoplasia (Lewin and Opitz, 1986). Autopsy in the brother showed truncus arteriosus and ventricular septal defect.
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly.
Teebi et al. (1989) observed an inbred family in Kuwait in which 3 females and 2 males from a sibship of 10 had macrosomia, severe microphthalmia, and early infant death. Three of the affected infants had median cleft palate. All 5 affected sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection. HEENT - Microphthalmia - Median cleft palate Resp - Respiratory infections in early life Growth - Macrosomia Misc - Early infant death Inheritance - Autosomal recessive ▲ Close
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.
Clinical Features Hall and Riggs (1975) reported a family in which 6 of 15 offspring of first-cousin unaffected parents had a characteristic syndrome consisting of severe mental retardation, microcephaly, depressed nasal bridge with anteverted nostrils, large lips, and progressive abnormalities of the bony skeleton. ... Silengo and Rigardetto (2000) reported a second family with Hall-Riggs syndrome. The male and female sibs presented with short stature, microcephaly, hypertelorism, a flat nasal bridge, large nose with a large tip and anteverted nostrils, a wide mouth with thick lips, and severe mental retardation.