Delayed speech and language development, and Open mouth

Diseases related with Delayed speech and language development and Open mouth

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.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47;mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

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 ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Motor delay


SOURCES: UMLS ORPHANET OMIM MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Medium match MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Mental 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 ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: GARD MONDO UMLS ORPHANET OMIM

More info about MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

EIEE49 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 ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hyperreflexia


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Medium match 5Q14.3 MICRODELETION SYNDROME

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

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET

More info about 5Q14.3 MICRODELETION SYNDROME

Medium match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic 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

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO OMIM DOID UMLS

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

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 ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET DOID OMIM MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

Medium match 2Q23.1 MICRODELETION SYNDROME

The 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

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS DOID ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MONDO UMLS DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Open mouth

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
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Other less frequent symptoms

Patients with Delayed speech and language development and Open mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Ventriculomegaly Hyperactivity Hypoplasia of the corpus callosum Strabismus Anxiety Short philtrum Stereotypy Abnormal facial shape Muscular hypotonia Feeding difficulties Short nose Anteverted nares Intellectual disability, severe Upslanted palpebral fissure Macrocephaly Nystagmus Hypertelorism Pica Autosomal dominant inheritance Hearing impairment Facial hypotonia Delayed myelination Neonatal hypotonia Coarse facial features Broad forehead Visual impairment Cryptorchidism Oxycephaly High palate

Rare Symptoms - Less than 30% cases


Autistic behavior Hyperreflexia Highly arched eyebrow Sensorineural hearing impairment Hypertonia Short stature Tetraplegia Synophrys Spastic tetraplegia Constipation High forehead Autism Prominent forehead Myoclonus Everted lower lip vermilion Dilation of lateral ventricles Drooling Prominent nasal bridge Delayed gross motor development Behavioral abnormality Macrotia Myopathic facies Aggressive behavior Muscular hypotonia of the trunk Autosomal recessive inheritance Apnea Telecanthus Encephalopathy Everted upper lip vermilion Respiratory insufficiency Ataxia Edema Epicanthus Dolichocephaly Facial asymmetry Acetabular dysplasia Neurodevelopmental delay Unsteady gait Esotropia Overlapping toe Excessive salivation Bilateral ptosis Cortical visual impairment Epileptic encephalopathy Broad-based gait Precocious puberty CNS hypomyelination Deep philtrum Ptosis Tented upper lip vermilion Growth delay Dysgenesis of the cerebellar vermis Eczema Cerebellar vermis hypoplasia Long palpebral fissure Enlarged cisterna magna Cerebellar dysplasia Dilated fourth ventricle Scoliosis Abnormality of the pinna Depressed nasal bridge Developmental regression Pectus carinatum Downturned corners of mouth Chronic constipation Lumbar scoliosis Polymicrogyria Feeding difficulties in infancy Malar flattening Generalized hirsutism Clinodactyly of the 5th finger Brachycephaly Short palm Sleep disturbance Hypoplasia of penis Hip dysplasia Sandal gap Recurrent infections Self-injurious behavior Polyphagia Macrodontia Paroxysmal bursts of laughter Hypospadias Cerebellar hypoplasia Genu recurvatum Optic nerve hypoplasia Abnormality of the periventricular white matter Respiratory insufficiency due to muscle weakness Large forehead Language impairment Apraxia Broad nasal tip Poor speech Irritability Attention deficit hyperactivity disorder Intellectual disability, moderate Retrognathia Obesity Downslanted palpebral fissures Failure to thrive Increased variability in muscle fiber diameter Severe muscular hypotonia Decreased fetal movement Hydrocephalus Long face Abnormal cardiac septum morphology Ventricular septal defect Myopathy Motor delay Long ear Short attention span Restlessness Agitation Schizophrenia Psychosis Flat face Thin upper lip vermilion X-linked recessive inheritance Optic atrophy Clonus Protruding tongue Wide nasal bridge Inability to walk Narrow forehead Febrile seizures Waddling gait Paraplegia Bulbous nose Spastic paraplegia Wide mouth Slow progression Pes planus Congenital onset Babinski sign Dystonia Talipes equinovarus Dysarthria Severe global developmental delay Flexion contracture Spasticity Frontal cortical atrophy Abnormality of nervous system morphology Agenesis of cerebellar vermis Thick eyebrow Toe syndactyly Deeply set eye Fusion of the left and right thalami Thick upper lip vermilion Holoprosencephaly Long eyelashes Hypotelorism Prominent nose Asymmetry of the ears



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Clinodactyly of the 5th finger, related diseases and genetic alterations Hyperreflexia and Hernia, related diseases and genetic alterations

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