Symptoma

Autosomal Recessive Mental Retardation Type 27

MRT27

Long, hyperflexible digits are often present among older individuals. A high arched palate is nearly always present and cleft lip and palate are found in nearly a third. Developmental delay is common although no regression has been observed. [wohproject.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Clinical Characteristics Ocular Features: Optic atrophy is generally but not always present. Internuclear ophthalmoplegia and nystagmus have been reported. [disorders.eyes.arizona.edu]

Concerning the expressive language, she also presented a restricted vocabulary. The father (II-9) was a 42 year old man. By age 38 he complained fatigue. At the age of 40 he presented diabetes mellitus. [kundoc.com]

Characterize the relationship between the age of presentation and the severity level of mental retardation. [pedsinreview.aappublications.org]

  • Anorexia

    Research output : Contribution to journal › Article Internalizing and externalizing conditions in adolescent anorexia Muratori, F., Viglione, V., Maestro, S. & Picchi, L., 2004, In : Psychopathology. 37, 2, p. 92-97 6 p. [moh-it.pure.elsevier.com]

  • Skin Papule

    Clinical features of affected individuals with this form of alopecia include: shedding of normal scalp hair several months after birth with failure to regrow; appearance of skin papules within the first year of life; sparse eyebrows and eyelashes; lack [jpma.org.pk]

  • Blonde Hair

    She had thin, blond hair. [findzebra.com]

  • Papule

    Clinical features of affected individuals with this form of alopecia include: shedding of normal scalp hair several months after birth with failure to regrow; appearance of skin papules within the first year of life; sparse eyebrows and eyelashes; lack [jpma.org.pk]

  • Small Head

    Signs & Symptoms Although there is great variability in the signs and symptoms associated with Dubowitz syndrome, they may include drooping eyelid (ptosis); abnormally wide space between eyelids (telecanthus); a small head (microcephaly); an abnormal [rarediseases.org]

    Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. [findzebra.com]

    * criduchat (kree-doo-SHA), French for "cat's cry," is a genetic disorder that can cause mental retardation, a small head, and a cat-like whine. * Turner syndrome is a genetic disorder that can cause several physical abnormalities, including shortness [humanillnesses.com]

  • Muscle Hypotonia

    Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

    Systemic Features: Males have mild to moderate mental retardation, muscle hypotonia and weakness with postural tremor. Their standing position is broad-based and they are unable to sit or stand otherwise without some support. [disorders.eyes.arizona.edu]

  • Muscle Hypotonia

    Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

    Systemic Features: Males have mild to moderate mental retardation, muscle hypotonia and weakness with postural tremor. Their standing position is broad-based and they are unable to sit or stand otherwise without some support. [disorders.eyes.arizona.edu]

  • Coxa Vara

    A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. Arch Med Res. 2011 Feb;42(2):110-4. Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M. [baqiqau.org]

  • Hyperreflexia

    […] dysarthria, nystagmus; partial complex and generalized motor seizures; polyneuropathy; genetic testing available SCA11 (autosomal dominant type 11) 15q14-q21.3 by linkage Slowly progressive gait and extremity ataxia, dysarthria, vertical nystagmus, hyperreflexia [accessmedicine.mhmedical.com]

    […] metacarpophalangeal joint; [Feet]; Pes cavus; Slender feet SKIN, NAILS, HAIR: [Hair]; Central balding; Sparse hair MUSCLE, SOFT TISSUE: Muscle atrophy affecting the upper back and neck muscles NEUROLOGIC: [Central nervous system]; Mental retardation ; Hyperreflexia [findzebra.com]

    It was described in 1934 by Folling in 10 children with ID, hypertonia, and hyperreflexia, with a musty odor in urine and sweat. Seizures and tremors are common, as are eczema and psychotic manifestations. [emedicine.medscape.com]

  • Resting Tremor

    In familial cases, MECP2 analysis might be considered in families compatible with Xlinked inheritance, where affected males have MR spasticity, movement disorder, or resting tremors, and the Xq28 region can not be excluded by linkage analysis. [latunisiemedicale.com]

More Symptoms of Mental retardation, autosomal recessive type 27 » • • • Back to: « Mental retardation Treatments See also the following treatment articles: Treatments for Intellectual disabilities Causes See also causal information: Causes of Mental [familydiagnosis.com]

Treatment: Treatment is not needed for this disorder, as the condition is assumed to be benign. Certain corrective treatments are done to correct the disorder, often times done considering factors such as the extent of the disease. [medigoo.com]

Pedigree: X-linked recessive, carrier mother X-linked recessive, father affected Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.de]

Diagnosis/ prognosis: There is no treatment or cure for Huntington’s Disease, and the patient eventually becomes completely dependent on others for daily functioning. [who.int]

Treatment: None available Prognosis: Unknown Ancillary treatments and support: Supportive Specialists and specialty centers: neurologist, orthopedist References: Xin, B., Puffenberger, E.G., Turben, S., Tan, H. [wohproject.org]

The wide range of disease severity and the overlapping of many signs can make pedigree construction and the determination of recurrence risks and prognosis challenging. The only recourse may be genotyping. [disorders.eyes.arizona.edu]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

Better prognosis in newborns with trisomy 13 who received intensive treatments: A retrospective study of 16 patients. Cell Biochem Biophys. 2012; 63 (3):191-8. doi: 10.1007/s12013-012-9355-0. [PubMed: 22487910 ]. [genecelltissue.com]

Etiology The perspective of disease etiology can provide beneficial and critical clinical data for diagnostic, prognostic, concept, and convert to treatment. [genecelltissue.com]

Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. [books.google.com]

The frequency of minor physical anomalies and presence or absence of mental retardation are two dimensions of the physical and behavioral phenotype that may demark etiologically distinct subgroups. [jamanetwork.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The consequences often are moderate to profound MR of unknown etiology. [scielo.br]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Epidemiologic findings have shown that autism is a rare disorder with a prevalence of two to five per 10 000, a male-female ratio of 3:1, and an association with mental retardation (66% to 75% of autistic subjects have full-scale IQ scores [70). [jamanetwork.com]

However little data exists about the epidemiological relevance of familial MR. [scielo.br]

Relevant External Links for LINS1 Genetic Association Database (GAD) LINS1 Human Genome Epidemiology (HuGE) Navigator LINS1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LINS1 Atlas of Genetics and Cytogenetics in Oncology and Haematology [genecards.org]

The Epidemiology of Hypoparathyroidism in Italy: An 8-Year Register-Based Study. Calcif Tissue Int. 2017 Mar. 100 (3):278-285. [Medline]. Bhadada SK, Bhansali A, Upreti V, Subbiah S, Khandelwal N. [medscape.com]

Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke. [books.google.ro]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.de]

A powerful approach to advance our understanding of the pathophysiology of hair loss is to identify the genes underlying isolated and syndromic forms of hair loss. [jpma.org.pk]

Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more. [books.google.ro]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

GRC’s objective is identification, diagnosis, and prevention of common genetic diseases in Iran. [genetics.uswr.ac.ir]

It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation. [iofbonehealth.org]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]