Delayed speech and language development, and Downturned corners of mouth

Diseases related with Delayed speech and language development and Downturned corners of mouth

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

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

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

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Other less relevant matches:

High match SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome

Related symptoms:

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


SOURCES: MONDO OMIM ORPHANET UMLS

More info about SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET OMIM DOID UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

High match DESANTO-SHINAWI SYNDROME; DESSH

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

DESANTO-SHINAWI SYNDROME; DESSH Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET UMLS

More info about DESANTO-SHINAWI SYNDROME; DESSH

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High 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

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET UMLS OMIM MONDO DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: MONDO EFO UMLS OMIM

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Downturned corners of mouth

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Absent speech Autosomal dominant inheritance Synophrys Abnormal facial shape Short philtrum Growth delay Cryptorchidism Feeding difficulties Epicanthus Aggressive behavior Long philtrum Wide mouth Sensorineural hearing impairment Hyperactivity Developmental regression Thin upper lip vermilion Abnormality of the pinna Round face Smooth philtrum Obesity Scoliosis Hearing impairment Anteverted nares Short stature Brachycephaly Short neck Infantile onset Upslanted palpebral fissure Myopia Macrocephaly Pica Deeply set eye Wide nasal bridge Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Agenesis of corpus callosum Prominent forehead Hirsutism Muscular hypotonia of the trunk Abnormality of the skeletal system Dystonia Kyphosis Talipes equinovarus Spasticity Anxiety Edema Autism Bruxism Motor delay Poor speech Low-set ears Downslanted palpebral fissures Cerebral atrophy Neonatal hypotonia Astigmatism Midface retrusion Autosomal recessive inheritance Short nose Overweight Thin vermilion border Abnormality of the cerebral white matter Delayed myelination Constipation Low anterior hairline Micrognathia Slender finger Broad forehead Short foot Leukemia Dry skin Asymmetry of the ears Nail dystrophy Open mouth Visual impairment Long upper lip Oxycephaly Prominent nasal bridge Pectus carinatum Nail dysplasia Facial hypotonia Pes planus Chronic constipation Lumbar scoliosis Nystagmus Malar flattening X-linked recessive inheritance Micropenis Macrotia Autistic behavior Hypointensity of cerebral white matter on MRI Wide intermamillary distance Milia Abnormal myelination Unilateral cryptorchidism Vertebral fusion Bilateral ptosis Language impairment Phimosis Joint hypermobility Flat face Camptodactyly Blepharophimosis Gastroesophageal reflux Narrow mouth Congenital onset Intrauterine growth retardation Ptosis Low posterior hairline Broad neck Hypopigmentation of the skin Generalized hirsutism Prominent supraorbital ridges Increased body weight Broad hallux Acute myeloid leukemia Myeloid leukemia Regional abnormality of skin Echolalia Broad face Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Prominent metopic ridge Prominent nasal tip Dental crowding Partial agenesis of the corpus callosum Unilateral cleft lip Tetraparesis Lumbar hyperlordosis Generalized myoclonic seizures Waddling gait Retinal dystrophy Abnormality of the foot Hip dislocation Dysarthria Muscular hypotonia Ataxia Abnormality of the cerebellar vermis Horizontal eyebrow Mild microcephaly Lower limb spasticity Truncal obesity Progressive microcephaly Postnatal microcephaly Hypotelorism Febrile seizures Cleft lip Cleft upper lip Tented upper lip vermilion Everted lower lip vermilion Sandal gap Pointed chin Clinodactyly Inability to walk Broad-based gait Long nose Cleft palate Widely spaced teeth Microretrognathia Absence seizures Short palpebral fissure Bifid uvula Highly arched eyebrow Wide nose Small for gestational age Neurological speech impairment Protruding ear Telecanthus Retrognathia Failure to thrive Hypospadias Inverted nipples Agitation Full cheeks Sleep disturbance Thick eyebrow Bulbous nose Attention deficit hyperactivity disorder Coarse facial features Posteriorly rotated ears Impaired mastication Obsessive-compulsive behavior Drooling Hyperlordosis Round ear



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