Delayed speech and language development, and Rigidity

Diseases related with Delayed speech and language development and Rigidity

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Rigidity that can help you solving undiagnosed cases.


Top matches:

Medium match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Medium match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: DOID MONDO UMLS OMIM

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

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Other less relevant matches:

Medium match WAISMAN SYNDROME; WSMN

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

WAISMAN SYNDROME; WSMN Is also known as parkinsonism, early-onset, with mental retardation, basal ganglion disorder with mental retardation;bgmr, wsn;laxova-opitz syndrome; waisman syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET

More info about WAISMAN SYNDROME; WSMN

Medium match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Motor delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

More info about DYSTONIA 16; DYT16

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH Is also known as mental retardation, x-linked, with epilepsy;mrxe;mrxsh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Motor delay


SOURCES: ORPHANET MESH DOID MONDO OMIM UMLS

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

Medium match PARKINSONISM-DYSTONIA, INFANTILE; PKDYS

Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by Kurian et al., 2011).For an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM ), also known as autosomal recessive Segawa syndrome.

PARKINSONISM-DYSTONIA, INFANTILE; PKDYS Is also known as dopamine transporter deficiency syndrome;dtds;ipd; pkdys

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: GARD MONDO UMLS SCTID OMIM NCIT ORPHANET MESH

More info about PARKINSONISM-DYSTONIA, INFANTILE; PKDYS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by Berryer et al., 2013).

Related symptoms:

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


SOURCES: UMLS MONDO MESH OMIM DOID GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Medium match PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS

Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to nonsyndromic mental retardation (OMIM ). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).

PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS Is also known as partington syndrome, mental retardation, x-linked, syndromic 1;mrxs1, mental retardation, x-linked, with dystonic movements, ataxia, and seizures, mental retardation, x-linked 36;mrx36

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM

More info about PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS

Medium match SALLA DISEASE; SD

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

SALLA DISEASE; SD Is also known as sialuria, finnish type;

Related symptoms:

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


SOURCES: ORPHANET OMIM UMLS MONDO SCTID GARD NCIT

More info about SALLA DISEASE; SD

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Parkinsonism Bradykinesia Motor delay Dystonia Dysarthria Spasticity Generalized hypotonia Autosomal recessive inheritance Abnormal pyramidal sign X-linked recessive inheritance Cerebellar atrophy Gait disturbance Limb dystonia Resting tremor Abnormality of movement Pica

Rare Symptoms - Less than 30% cases


Feeding difficulties Morphological abnormality of the pyramidal tract Progressive Absent speech Developmental regression Epileptic encephalopathy Choreoathetosis Strabismus Pain Ataxia Autosomal dominant inheritance Cerebral atrophy Intellectual disability, severe Hypertonia Language impairment Dyskinesia Athetosis Slurred speech EEG abnormality Cogwheel rigidity Torticollis Encephalopathy Myoclonus Shuffling gait Akinesia Dementia Intellectual disability, moderate Postural instability Atonic seizures Infantile onset Hypomimic face Apraxia Nystagmus Hyperreflexia Lewy bodies Constipation Autistic behavior Oligosacchariduria Autism Gastroesophageal reflux Orofacial dyskinesia Muscular hypotonia of the trunk Irritability Abnormality of eye movement Microcephaly Chorea Cerebral palsy Delayed gross motor development Abnormality of carboxylic acid metabolism Hypokinesia Oculogyric crisis Limb hypertonia Postnatal microcephaly Tetraparesis Vacuolated lymphocytes Exotropia Severe global developmental delay Coarse facial features Abnormality of metabolism/homeostasis Abnormality of the skeletal system Muscular hypotonia Growth delay Grasp reflex Stuttering Focal dystonia Arachnoid cyst Lower limb spasticity Inability to walk Clumsiness Absence seizures Spastic tetraparesis Short palpebral fissure Astereognosia Triangular face Wide mouth Flexion contracture Abnormal facial shape Progressive cerebellar ataxia Typical absence seizures Atypical absence seizures Impulsivity Focal seizures with impairment of consciousness or awareness Thickened calvaria Hypertelorism Involuntary movements Agraphesthesia Neurofibrillary tangles Frontal bossing Macrocephaly Clonus Substantia nigra gliosis Motor aphasia Parkinsonism with favorable response to dopaminergic medication Senile plaques Hyposmia Hand tremor Frontotemporal dementia Alzheimer disease Neurological speech impairment Aphasia Intention tremor Neurodegeneration Neuronal loss in central nervous system Gliosis Mental deterioration Slow progression Cerebral cortical atrophy Muscle stiffness Hemiplegia Status epilepticus Oxycephaly Acrania Action tremor Lower limb pain Epileptic spasms Infantile spasms Drooling Generalized tonic-clonic seizures Generalized myoclonic seizures Babinski sign Hyporeflexia Hypoplasia of the corpus callosum Scoliosis Retrocollis Limb pain Craniofacial dystonia Poor speech Facial grimacing Laryngeal dystonia Generalized dystonia Postural tremor Dysphonia Ischemic stroke Stroke Dysphagia Megalencephaly Abnormality of extrapyramidal motor function Cerebral calcification Aspartylglucosaminuria



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