In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Open mouth that can help you solving undiagnosed cases.
MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47;mrx47
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Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ;
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SOURCES: UMLS ORPHANET OMIM MONDO
More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMRMental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Is also known as ;
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SOURCES: GARD MONDO UMLS ORPHANET OMIM
More info about MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURESEIEE49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
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The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3
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SOURCES: ORPHANET
More info about 5Q14.3 MICRODELETION SYNDROMESpastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly
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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;
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SOURCES: ORPHANET DOID OMIM MONDO UMLS
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
2Q23.1 MICRODELETION SYNDROME Is also known as del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome
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SOURCES: ORPHANET
More info about 2Q23.1 MICRODELETION SYNDROMEMENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;
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SOURCES: MONDO UMLS DOID ORPHANET OMIM
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48
Symptoms // Phenotype | % cases |
---|---|
Seizures | Common - Between 50% and 80% cases |
Generalized hypotonia | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Microcephaly | Common - Between 50% and 80% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Patients with Delayed speech and language development and Open mouth. may also develop some of the following symptoms:
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