Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). ... About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function. Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. ... Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion.
Rodriguez et al. (1990) suggested that the principal disorders that must be differentiated are Genee-Wiedemann syndrome (263750) and Nager syndrome (154400). Coloboma of the eyelids and accessory nipples, which are features of Genee-Wiedemann syndrome, were not present in the patients reported by Rodriguez et al. (1990). Hecht (1992) suggested that the disorder reported by Hecht et al. (1987) as Nager syndrome might represent this disorder (see 154400). However, Rodriguez et al. (1992) concluded that the sibs reported by Hecht et al. (1987) indeed had Nager syndrome and that important differences distinguished it from Rodriguez lethal acrofacial dysostosis syndrome. ... Wessels et al. (2002) described a case of Rodriguez lethal acrofacial dysostosis syndrome, identified by prenatal ultrasonography at 25 weeks' gestation.
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.
In 1939, Hans Grebe attributed the same name to the condition observed in two sisters with markedly short limbs and digits but normal trunk; this condition, although superficially similar to Fraccaro's achondrogenesis, became later known as Grebe chondrodysplasia or Grebe syndrome. Subsequently, the name achondrogenesis was used to characterize the most severe forms of human chondrodysplasia, invariably lethal before or shortly after birth. ... In thanatophoric dysplasia type II, cloverleaf skull is common. Short rib-polydactyly syndromes. Polydactyly is usually present; when absent, the short rib-polydactyly syndromes may be confused with thanatophoric dysplasia. Roberts syndrome . Severe limb shortening with only mildly affected axial skeleton may suggest Roberts syndrome. In Roberts syndrome standard cytogenetic preparations stained with Giemsa or C-banding techniques show in most chromosomes during metaphase the characteristic chromosomal abnormality of premature centromere separation (PCS) and separation of the heterochromatic regions [also called heterochromatin repulsion (HR)].
A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
A number sign (#) is used with this entry because of evidence that achondrogenesis type IB (ACG1B) is caused by homozygous or compound heterozygous mutation in the DTDST gene (606718) on chromosome 5q32. Description The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of Achondrogenesis Achondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino).
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 20 (NPHS20) is caused by hemizygous or heterozygous mutation in the TBC1D8B gene (301027) on chromosome Xq22. Description Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. ... For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). Clinical Features Dorval et al. (2019) reported 3 brothers, born of unrelated parents from Ecuador (family A), with congenital onset of steroid-resistant nephrotic syndrome. ... An unrelated European boy with the disease presented with steroid-resistant nephrotic syndrome at 2 years of age. Renal biopsy showed glomerulosclerosis and effacement of foot processes. ... Wildtype human TBC1D8B short isoform significantly rescued the phenotype in tbc1d8b -/- zebrafish, whereas human TBC1D8B with mutations associated with steroid-resistant nephrotic syndrome only partially rescued the phenotype.
Clinical description Early PCA symptoms include visuoperceptual and visuospatial dysfunction, apraxia and alexia. Features of Bálint syndrome (simultanagnosia, optic ataxia and oculomotor apraxia) and Gerstmann syndrome (acalculia, agraphia, finger agnosia and left-right disorientation) are commonly described. ... It should also be noted that PCA is a relatively heterogenous syndrome with some experiencing a very focal visual syndrome, whilst others show a more mixed cognitive picture with prominent visual but also evident episodic memory deficits from early in the disease course. ... An international consensus classification frameworkdistinguishes two syndromic description levels. Classification 1 (PCA) defines the core clinical, cognitive, and neuroimaging features and exclusion criteria of the clinico-radiological syndrome. Classification level 2 (PCA-pure, PCA-plus) establishes whether, in addition to the core PCA syndrome, the core features of any other neurodegenerative syndromes are present. ... Diagnosis of this clinico-radiological syndrome is based on neurological assessment, specific visual and cognitive testing, and (optional supportive) brain imaging and routine blood tests.
Posterior cortical atrophy Other names Biparietal Alzheimer disease Lobes of the human brain Specialty Neurology Posterior cortical atrophy ( PCA ), also called Benson's syndrome , is a rare form of dementia which is considered a visual variant or an atypical variant of Alzheimer's disease (AD). [1] [2] [3] The disease causes atrophy of the posterior part of the cerebral cortex , resulting in the progressive disruption of complex visual processing . [4] PCA was first described by D. ... Researchers and physicians are working to establish a standard definition and diagnostic criteria for PCA. [18] PCA may also be correlated with Lewy body disease , Creutzfeldt–Jakob disease , Bálint's syndrome , and Gerstmann syndrome . [9] [10] [19] In addition, PCA may result in part from mutations in the presenilin 1 gene ( PSEN1 ). [10] Diagnosis [ edit ] The cause of PCA is unknown, and there are no fully accepted diagnostic criteria for the disease. [2] [10] This is partially due to the gradual onset of PCA symptoms, their variety, the rare nature of the disease, and the younger age of onset typically 50–60 years. [20] In 2012, the first international conference on PCA was held in Vancouver, Canada. ... Bernard; Alexis Brice (September 2004). "Benson's syndrome or Posterior Cortical Atrophy" (PDF) . ... External links [ edit ] Posterior Cortical Atrophy support from the Dementia Research Centre Classification D ICD - 10 : G31.1 External resources Orphanet : 54247 v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
Overview Posterior cortical atrophy is a brain and nervous system syndrome that causes brain cells to die over time. ... Common symptoms include trouble reading, judging distances and reaching for objects. People with the syndrome may not be able to recognize objects and familiar faces.
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). Epidemiology The syndrome has been described in less than 30 patients so far.
Clinical Features The features of the Strudwick type of SEMD include severe dwarfism, superficially resembling the Morquio syndrome, and pectus carinatum and scoliosis which are usually marked. ... Spranger and Maroteaux (1982) were dubious about the distinctness of the syndrome from SED congenita. Kousseff and Nichols (1984) defended the diagnosis of Strudwick SMED in patients 5 and 6 in the report of Anderson et al. (1982).
A number sign (#) is used with this entry because of evidence that CHAND syndrome (CHANDS) is caused by homozygous mutation in the RIPK4 gene (605706) on chromosome 21q22. Biallelic mutation in the RIPK4 gene can also cause Bartsocas-Papas syndrome (BPS; 263650), a more severe disorder with overlapping features. Description CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017). Clinical Features Baughman (1971) described a seemingly distinct syndrome characterized by curly hair and hypoplastic nails with congenital ankyloblepharon (fusion of eyelids). ... The authors considered the disorder to be an attenuated form of Bartsocas-Papas syndrome, but noted that unlike previously reported patients with BPS, their patient did not have pterygia or syndactyly.
Summary Clinical characteristics. Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children. Diagnosis/testing. The diagnosis of congenital stromal corneal dystrophy is established in an individual with bilateral corneal opacities and characteristic findings on transmission electron microscopy. Identification of a heterozygous pathogenic variant in DCN by molecular genetic testing can confirm the diagnosis.
A number sign (#) is used with this entry because of evidence that congenital stromal corneal dystrophy (CSCD) is caused by heterozygous mutation in the gene encoding decorin (DCN; 125255) on chromosome 12q21. Description Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from congenital corneal opacifications such as congenital hereditary endothelial dystrophy (see 121700), posterior polymorphous dystrophy (see 122000), and congenital glaucoma (see 137760). Most individuals undergo a penetrating keratoplasty in late adolescence or in early adulthood with good results (summary by Kim et al., 2011 and Jing et al., 2014).
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including "lazy eye" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia). Frequency Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature.
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. Epidemiology The exact prevalence of this corneal dystrophy is not known but it is very rare: CSCD has been reported in 4 families to date in Germany, France, Belgium and Norway. Clinical description Patients develop bilateral corneal lesions before birth. The flakes and spots become more numerous with age, progressively increasing the effect on vision. Corneal erosions, photophobia and corneal vascularization are absent.
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
A number sign (#) is used with this entry because of evidence that the camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16. ... Clinical Features Toydemir et al. (2006) evaluated a large Utah pedigree in which 27 living affected family members spanning 4 generations (from a total of 35 affected individuals in 7 generations) had an autosomal dominant syndrome of camptodactyly, tall stature, and hearing loss, otherwise known as the CATSHL (pronounced 'cat-shul') syndrome. ... No individual had characteristics of LADD syndrome (149730) or craniosynostosis syndromes caused by mutations in FGFR3. The diagnosis of Marfan syndrome was excluded by the fact that no affected individuals had severe myopia, lens dislocation, or aortic root abnormalities. ... Mapping By linkage analysis in the large Utah family with CATSHL syndrome, Toydemir et al. (2006) mapped the disorder to the tip of chromosome 4p (lod score of 3.76 with maker D4S412).
Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification.
Clinical Features Mochida et al. (2010) reported a highly consanguineous Saudi Arabian family in which 8 individuals had a syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain tissue, including the cerebral white matter and basal ganglia. ... There was no evidence of congenital infection, and Mochida et al. (2010) suggested that the syndrome resembled pseudo-TORCH syndrome (251290). Of note, a second autosomal recessive disorder, short rib-polydactyly syndrome type III (SRTD3; see 613091) also segregated independently in this family, and 1 individual had both disorders. ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Microcephaly, postnatal Eyes - Cataracts, congenital ABDOMEN Liver - Hepatomegaly GENITOURINARY Internal Genitalia (Male) - Cryptorchidism (1 patient) Kidneys - Renal anomalies (in some) - Ectopic kidney (2 patients) - Renal cystic dysplasia (1 patient) NEUROLOGIC Central Nervous System - Developmental delay, profound - Intraparenchymal brain hemorrhage, multifocal - Cystic destruction of brain tissue, including basal ganglia - Ventriculomegaly - Porencephalic changes - Subependymal calcifications - Reduced white matter volume - Seizures - Spasticity - Hyperreflexia - Atrophic pons (in some) - Cerebellar hypoplasia (in some) MISCELLANEOUS - Onset at birth - Death usually occurs in early infancy - Resembles pseudo-TORCH syndrome ( 251290 ) MOLECULAR BASIS - Caused by mutation in the junctional adhesion molecule 3 gene (JAM3, 606871.0001 ) ▲ Close
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts.
A number sign (#) is used with this entry because Chudley-McCullough syndrome (CMCS) is caused by homozygous or compound heterozygous mutation in the GPSM2 gene (609245) on chromosome 1p13. ... Ostergaard et al. (2004) concluded that the basic developmental defect in Chudley-McCullough syndrome is agenesis of the corpus callosum, not obstruction of the foramen of Monro. ... Doherty et al. (2012) reported 12 patients from 8 families with Chudley-McCullough syndrome. Five of the families were Mennonite. ... Inheritance The Chudley-McCullough syndrome is an autosomal recessive disorder (Chudley et al., 1997; Matteucci et al., 2006). ... Four patients originally reported to have nonsyndromic deafness by Walsh et al. (2010) and Yariz et al. (2012) were found by Doherty et al. (2012) to have neuroimaging abnormalities consistent with a diagnosis of Chudley-McCullough syndrome. By homozygosity mapping and whole-exome sequencing of patients with Chudley-McCullough syndrome, Doherty et al. (2012) identified homozygous or compound heterozygous mutations in the GPSM2 gene (609245.0003-609245.0006).
Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Collins et al. (1990) described a mother and 2 daughters with severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high-arched palate, and crowded dentition. The mother had pulmonary valve stenosis diagnosed in infancy. In their teens, the daughters were shown to have pulmonary valve stenosis; in one of them, echocardiogram showed thickening and collapse of the mitral valve as well. Limbs - Disproportionately short legs - Small hands - Clinodactyly Inheritance - Autosomal dominant Eyes - Ptosis Growth - Short stature Mouth - High-arched palate Teeth - Crowded dentition Cardiac - Valvular heart disease - Pulmonary valve stenosis - Thick collapsed mitral valve ▲ Close
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly.
Meinecke and Wiedemann (1987) expressed the opinion that this disorder is the same as that named 'postaxial acrofacial dysostosis syndrome' (263750) by Miller et al. (1979). ... same as postaxial acrofacial dysostosis syndrome (263750) ▲ Close
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma.
Clinical Features Van Royen-Kerkhof et al. (1998) reported a nonconsanguineous family of Indonesian and white Dutch ancestry in which 2 brothers had a Joubert (see 213300)-like syndrome, and 1 of the brothers and a sister also had type I Gaucher disease (230800). Joubert syndrome was initially diagnosed in the proband based on the presence of episodic hyperpnea/apnea, agenesis of the cerebellar vermis and corpus callosum, hydrocephalus, and chorioretinal coloboma. ... The proband's younger brother, who 'fulfilled the diagnostic criteria' for Joubert syndrome, died at 8 months of age. Kroes et al. (2005) restudied the family reported by Van Royen-Kerkhof et al. (1998), which then included 2 more sibs, both born after artificial donor insemination: a healthy girl and a third affected boy. ... The authors concluded that the phenotype was distinct from Joubert syndrome, citing the absence of the molar tooth sign and the presence of additional supratentorial brain malformations, and proposed the designation 'X-linked cerebral-cerebellar-coloboma syndrome.'
Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions.
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia.
Halal syndrome Other names Microcephaly-cleft palate syndrome Halal syndrome is a rare disorder characterised by microcephaly , cleft palate , and variable other anomalies. References [ edit ] Halal F; Opitz, John M. (1983). "Dominantly inherited syndrome of microcephaly and cleft palate".
Mapping Zuffardi and Fraccaro (1982) mapped the locus for this syndrome to Xq28, distal to G6PD (305900), based on reports they found in the literature of occurrence in 2 unrelated females with a balanced X-autosome translocation. ... Duchenne muscular dystrophy (310200) and Aicardi syndrome (304050) are disorders mapped by this method, and the Aarskog-Scott syndrome (305400) may be an example.
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy.