Delayed speech and language development, and Gastroesophageal reflux

Diseases related with Delayed speech and language development and Gastroesophageal reflux

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47 Is also known as ;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: MONDO UMLS OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

High 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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: DOID MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

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Other less relevant matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Related symptoms:

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


SOURCES: UMLS DOID MONDO OMIM GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 Is also known as ;pch8; pontocerebellar hypoplasia due to chmp1a mutation

Related symptoms:

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


SOURCES: MONDO DOID UMLS ORPHANET SCTID OMIM

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

High match STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX

gene, localised to the Xp11.2 region.

STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX Is also known as mental retardation, x-linked, stocco dos santos type;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: UMLS GARD OMIM ORPHANET MESH MONDO SCTID

More info about STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

High match MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Is also known as ;congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Cryptorchidism


SOURCES: MONDO OMIM ORPHANET UMLS

More info about MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

High match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: OMIM

More info about SWEENEY-COX SYNDROME; SWCOS

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Abnormal facial shape Hypoplasia of the corpus callosum Constipation Autosomal recessive inheritance Postnatal microcephaly Short stature Spasticity Hypertelorism Hyperactivity Muscular hypotonia of the trunk Strabismus Dystonia Talipes equinovarus Cerebral atrophy

Rare Symptoms - Less than 30% cases


Cryptorchidism Visual impairment Small hand Hirsutism Short foot Intellectual disability, severe Autosomal dominant inheritance Pain Muscle weakness Anteverted nares Scoliosis Thin upper lip vermilion Anxiety Autistic behavior Poor speech Flexion contracture Cerebellar hypoplasia Congenital onset Myopia Hypermetropia Infantile onset Irritability Hypertonia Encephalopathy Wide mouth Prominent nasal bridge Chorea Abnormality of carboxylic acid metabolism Limb muscle weakness Dry skin Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Increased variability in muscle fiber diameter Poor head control Severe muscular hypotonia Muscular dystrophy Congenital muscular dystrophy Congenital contracture Mildly elevated creatine phosphokinase Delayed puberty Hyperkeratosis Joint laxity Motor delay Hyperlordosis Attention deficit hyperactivity disorder Broad forehead Small nail Broad-based gait Obsessive-compulsive behavior Growth delay Neonatal hypotonia Myopathy High palate Respiratory insufficiency Pectus excavatum Recurrent respiratory infections Respiratory failure Spinal rigidity Multiple joint contractures Neck muscle weakness Centrally nucleated skeletal muscle fibers Bilateral talipes equinovarus Choanal atresia Wide anterior fontanel Generalized hirsutism Overfolded helix Cutaneous syndactyly Cupped ear Long fingers Talipes Prominent metopic ridge Eyelid coloboma Broad neck Asplenia Short columella Velopharyngeal insufficiency Median cleft palate Underdeveloped nasal alae Narrow chest Posteriorly rotated ears Abnormal elasticity of skin Weak cry Overweight Follicular hyperkeratosis Generalized joint laxity Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Hearing impairment Coloboma Micrognathia Ptosis Cleft palate Syndactyly Proptosis Craniosynostosis Anal atresia Autism Brachydactyly Vomiting Dyskinesia Mania Opisthotonus Poor eye contact Progressive encephalopathy Cerebral palsy Bradykinesia Wide nasal bridge Hypsarrhythmia Hernia Narrow mouth High forehead Parkinsonism Umbilical hernia Abnormality of eye movement Mask-like facies Athetosis Tapered finger Limb dystonia Orofacial dyskinesia Morphological abnormality of the pyramidal tract Hypomimic face EEG abnormality Ectodermal dysplasia Limb hypertonia Failure to thrive Generalized myoclonic seizures Hypokinesia Delayed gross motor development Cerebellar atrophy Arrhythmia Cerebral cortical atrophy Delayed myelination Abnormality of movement Abnormal pyramidal sign Behavioral abnormality X-linked inheritance Talipes valgus Epileptic encephalopathy Depressed nasal bridge Epicanthus Febrile seizures Kyphosis Hip dislocation Involuntary movements Intellectual disability, profound Bruxism Low-set ears Oculogyric crisis Fever Atrial septal defect Hypoplasia of the brainstem Hypertrichosis Hip dysplasia Dysphagia Short chin Impulsivity Nystagmus Rigidity Hyperreflexia Progressive Pes cavus Cortical visual impairment Tremor Gait ataxia Arthrogryposis multiplex congenita Abnormality of the foot Cognitive impairment Astigmatism Esotropia Upper eyelid coloboma


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