In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Atrial septal defect that can help you solving undiagnosed cases.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Is also known as ;
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SOURCES: UMLS MONDO OMIM ORPHANET DOID
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome
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Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'
CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract 21, multiple types, with or without microcornea, cataract, congenital, cerulean type, 4;cca4, cataract, pulverulent, juvenile-onset
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SOURCES: UMLS OMIM DOID MONDO MESH
More info about CATARACT 21, MULTIPLE TYPES; CTRCT21Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).
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SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD Is also known as ;short stature-developmental delay-congenital heart defect syndrome; tkt deficiency
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SOURCES: UMLS ORPHANET MONDO OMIM
More info about SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHDIMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).
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SOURCES: OMIM
More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHHEIEE27 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
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This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).
MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities;congenital megaconial myopathy; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities
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SOURCES: MONDO DOID OMIM ORPHANET UMLS MESH GARD
More info about MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMCSymptoms // Phenotype | % cases |
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Global developmental delay | Very Common - Between 80% and 100% cases |
Intellectual disability | Very Common - Between 80% and 100% cases |
Generalized hypotonia | Common - Between 50% and 80% cases |
Seizures | Common - Between 50% and 80% cases |
Absent speech | Uncommon - Between 30% and 50% cases |
Patients with Delayed speech and language development and Atrial septal defect. may also develop some of the following symptoms:
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