Delayed speech and language development, and Downslanted palpebral fissures

Diseases related with Delayed speech and language development and Downslanted palpebral fissures

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Related symptoms:

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


SOURCES: MONDO OMIM DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: UMLS MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome;prelds

Related symptoms:

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


SOURCES: DOID UMLS MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

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Other less relevant matches:

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Motor delay


SOURCES: GARD MONDO OMIM UMLS DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

High 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

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

High match YUAN-HAREL-LUPSKI SYNDROME; YUHAL

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

YUAN-HAREL-LUPSKI SYNDROME; YUHAL Is also known as ;17p11.2p12 microduplication syndrome; dup(17)(p11.2p12); trisomy 17p11.2-p12; trisomy 17p11.2p12; yuan-harel-lupski syndrome

Related symptoms:

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


SOURCES: ORPHANET UMLS OMIM MONDO

More info about YUAN-HAREL-LUPSKI SYNDROME; YUHAL

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Downslanted palpebral fissures

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Autosomal dominant inheritance Strabismus Microcephaly Hypertelorism Epicanthus Smooth philtrum Abnormal facial shape Intellectual disability, moderate Low-set ears Aggressive behavior Ptosis Autosomal recessive inheritance EEG abnormality

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Everted lower lip vermilion Anxiety Triangular face Highly arched eyebrow Focal seizures Generalized seizures High palate Congenital onset Autism Joint laxity Long philtrum Failure to thrive Poor speech Nystagmus Attention deficit hyperactivity disorder Retrognathia Drooling Pointed chin Long face Pica Wide nose Obesity Gait ataxia Laterally extended eyebrow Thick corpus callosum Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Cavum septum pellucidum Onion bulb formation Loss of consciousness Absence seizures Cyanosis Cerebellar hypoplasia Syringomyelia Chronic constipation Epileptic encephalopathy Respiratory tract infection High forehead Encephalopathy Hyporeflexia Large forehead Language impairment Delayed gross motor development Broad-based gait Decreased nerve conduction velocity Pallor Distal sensory impairment Upslanted palpebral fissure Areflexia Abnormality of cardiovascular system morphology Feeding difficulties Stereotypy Abnormal heart morphology Broad finger Abnormal cardiac septum morphology Congenital microcephaly Abnormality of the foot Constipation Unsteady gait Mild microcephaly Hypoplasia of the pons Amblyopia Long eyelashes Optic disc pallor Low posterior hairline Wide intermamillary distance Astigmatism Sensory impairment Peripheral neuropathy Motor delay Open mouth Overweight Thin vermilion border Tented upper lip vermilion Downturned corners of mouth Deeply set eye Neonatal hypotonia Cerebral atrophy Intellectual disability, severe Infantile onset Long eyebrows Broad eyebrow Polyphagia Calcinosis Truncal obesity Short chin Prominent nose Dolichocephaly Short philtrum Malar flattening Wide nasal bridge Postnatal microcephaly Inability to walk Hypotelorism Nephrocalcinosis Unilateral renal agenesis Apraxia Dental crowding Delayed myelination Broad nasal tip Irritability Hyperactivity Prominent forehead Oxycephaly Behavioral abnormality Short nose Macrocephaly Narrow palate Synophrys Hyperparathyroidism Brachycephaly Cupped ear Overfolded helix Blue sclerae Joint hypermobility Autistic behavior Midface retrusion Cerebellar atrophy Hypoplasia of the corpus callosum Obsessive-compulsive trait Demyelinating peripheral neuropathy


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