Clinical Features Kawashima and Tsuji (1987) reported the cases of a mother and son with microcephaly, mental retardation, and characteristic facies. The subjects were also deaf and had low-set, cup-shaped ears. The facial characteristics were asymmetry, prominent glabella, protruding lower lip, and micrognathia. Childhood photographs demonstrated microcephaly in the mother who became normocephalic by age 26 years. Inheritance Kawashima and Tsuji (1987) suggested autosomal dominant inheritance of this disorder. Head - Microcephaly Inheritance - Autosomal dominant Neuro - Mental retardation Facies - Facial asymmetry - Prominent glabella - Protruding lower lip - Micrognathia Ears - Deafness - Low-set, cup-shaped ears ▲ Close
A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group).
A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group).
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes).
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism.
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis.
Fryns et al. (1993) described 2 unrelated males who appeared to have the same syndrome. Profound mental retardation, early balding, muscular hypotrophy, small patellae, small hands and feet, and hypogonadism were features. ... Inheritance Vandersteen and Hennekam (2010) suggested that Scholte syndrome follows an X-linked recessive pattern of inheritance because all reported patients were male, including 2 brothers; none of the parents were consanguineous; cytogenetic studies failed to show abnormalities; and X inactivation was completely skewed in 1 of the mothers. Molecular Genetics Exclusion Studies In a patient with Scholte syndrome, Vandersteen and Hennekam (2010) found normal results from molecular testing of PQBP1 (300463) and FRAXA (see 309550).
Clinical Features Van den Berghe et al. (1978) described a family in which 4 males in 2 generations showed almost complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet. Conductor females showed slight hypoplasia of the ulnar side of the hand and mild syndactyly of the toes. Inheritance Van den Berghe et al. (1978) suggested X-linked recessive or autosomal dominant sex-influenced transmission as the possible mode of inheritance in the family with 4 males affected with absence of the ulna and lobster-claw deformity of the feet. INHERITANCE - X-linked recessive SKELETAL Limbs - Ulnar hypoplasia Hands - Hypoplastic ulna, severe - Nearly complete absence of fingers 2 to 5 - Fingers 2 to 5 hypoplastic (in carrier females) Feet - Lobster-claw foot deformity - Mild syndactyly (in carrier females) ▲ Close
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects).
In 2 male offspring of Kuwaiti first-cousins, Reardon et al. (1990) described congenital heart malformation and skeletal dysplasia, including coronal clefting of the vertebral bodies and short limbs. They found no report of an entirely similar case. Cardiac - Congenital heart defect Skel - Dysplasia - Vertebral body coronal clefting Limbs - Short Inheritance - Autosomal recessive ▲ Close
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma.
MacKay et al. (1987) described a seemingly 'new' autosomal recessive syndrome, a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients.
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes.
The author suggested either autosomal recessive or X-linked dominant inheritance (the mother had renal complications and hypertension during her pregnancies) of this syndrome, which was not previously described in the literature.
Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth.
On the island of Rodrigues in the Indian Ocean, Wallis and Beighton (1992) identified a brother and sister with moderately severe mental retardation, blindness due to severe ocular malformations (microphthalmia, microcornea, and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge with distal flaring of the nose and prominent ears), fine and sparse hair, and malaligned teeth. Wallis and Beighton (1992) emphasized, possibly inappropriately, the hair and dental changes in entitling their report. INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Face - Dysmorphic facial features Ears - Prominent ears Eyes - Blindness - Microphthalmos - Microcornea - Sclerocornea Nose - Narrow nasal bridge - Distal nasal flaring Teeth - Malaligned teeth SKIN, NAILS, & HAIR Hair - Fine hair - Sparse hair NEUROLOGIC Central Nervous System - Mental retardation ▲ Close
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy.
A number sign (#) is used with this entry because of evidence that Pilarowski-Bjornsson syndrome (PILBOS) is caused by heterozygous mutation in the CHD1 gene (602118) on chromosome 5q. Description Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features.
Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome involving chromosome Xq21 and including at least the CHM (300390) and POU3F4 (300039) genes. ... INHERITANCE - X-linked recessive HEAD & NECK Ears - Deafness, profound - Hearing loss, conductive - Hearing loss, sensorineural, progressive - Wide bulbous internal auditory meatus - Deficient or absent bone between the lateral end of the meatus and basal turn of the cochlea - Abnormal communication between the subarachnoid space in the meatus and the perilymph - Stapes fixation Eyes - Choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina) - Progressive vision loss (in males and some carrier females) - Choroidal sclerosis - Choroidoretinal degeneration (starting in the midperiphery of the fundus and progressing centrally and peripherally) - Reduced central vision (occurs last) - Constricted visual fields (occurs second) - Night blindness (occurs first) - Atrophy around the optic disc (in carrier females) - Irregular pigmentation of fundus (in carrier females) NEUROLOGIC Central Nervous System - Developmental delay - Mental retardation MISCELLANEOUS - Onset of choroideremia in second to third decade - Leakage of fluid ('gusher') if the stapes is disturbed - Female carriers may have mild hearing impairment and/or mild signs of choroideremia - Contiguous gene deletion syndrome MOLECULAR BASIS - Contiguous gene syndrome caused by deletion of chromosome Xq21 including at least the Rab escort protein 1 gene (CHM, 300390 ) and the POU domain, class 3, transcription factor 4 gene (POU3F4, 300039 ) ▲ Close
A number sign (#) is used with this entry because spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) is caused by homozygous or compound heterozygous mutation in the ASAH1 gene (613468) on chromosome 8p22. Description Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by Zhou et al., 2012). Clinical Features Haliloglu et al. (2002) reported a consanguineous Turkish family in which 3 sibs had childhood-onset spinal muscular atrophy and progressive myoclonic epilepsy. The children presented between ages 2 and 5 years with difficulty walking, frequent falls, and tremor.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem ). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia.
Rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting Spinal muscular atrophy with progressive myoclonic epilepsy Other names Hereditary myoclonus-progressive distal muscular atrophy syndrome This condition is inherited in an autosomal recessive manner Specialty Neurology Spinal muscular atrophy with progressive myoclonic epilepsy ( SMA-PME ), sometimes called Jankovic–Rivera syndrome , is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting ( atrophy ), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures . [1] Only 12 known families are described in scientific literature to have SMA-PME. [2] SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner. [3] SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis . [4] As with many genetic disorders , there is no known cure to SMA-PME. ... External links [ edit ] Classification D ICD - 10 : G25.3 OMIM : 159950 MeSH : C537563 External resources Orphanet : 2590 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
Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes , or other genes whose products are involved in ribosome biogenesis . [1] [2] [3] Contents 1 Ribosomes 2 Diseases 2.1 Diamond–Blackfan anemia 2.2 Dyskeratosis congenita 2.3 Shwachman–Diamond syndrome 2.4 5q- myelodysplastic syndrome 2.5 Treacher Collins syndrome 2.6 Cartilage–hair hypoplasia 2.7 North American Indian childhood cirrhosis 2.8 Isolated congenital asplenia 2.9 Bowen–Conradi syndrome 2.10 Other 2.10.1 Familial colorectal cancer type X 3 p53 4 Cancer 5 References Ribosomes [ edit ] Ribosomes are essential for protein synthesis in all living organisms. ... J.; Van Ravenswaaij-Arts, C. M. (2015). "CHARGE syndrome: A review of the immunological aspects" . ... "Mutation update on the CHD7 gene involved in CHARGE syndrome". Human Mutation . 33 (8): 1149–60. doi : 10.1002/humu.22086 . ... "Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome" . Seminars in Hematology . 48 (2): 136–43. doi : 10.1053/j.seminhematol.2011.01.002 . ... "Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome" . Semin. Hematol . 48 (2): 136–43. doi : 10.1053/j.seminhematol.2011.01.002 .
The term Marfan syndrome type 2 should not be used to refer to LDS. ... While pathogenic variants in TGFB3 have been associated with Rienhof syndrome, this phenotype is clinically related to Loeys-Dietz syndrome . ... Differential Diagnosis Syndromic Forms of Thoracic Aortic Aneurysms Marfan syndrome is a systemic disorder with a high degree of clinical variability. ... Clinical features significantly overlap with both Marfan syndrome and Loeys-Dietz syndrome, including early-onset aortic root dilatation and dissection, widely spaced eyes, joint hypermobility, contractures, bifid uvula, and pectus deformities. ... Although a glucose transporter defect would not be expected to cause abnormal arterial patterning, additional studies indicated upregulation of the TGFβ signaling pathway [Coucke et al 2006], consistent with the pathophysiology in LDS and Marfan syndrome. Other Syndromes Associated with Ascending Aortic Aneurysms Turner syndrome, one of the most common sex chromosome aneuploidy syndromes, is caused by the loss of one of the X chromosomes (45,X).