Delayed speech and language development, and Astigmatism

Diseases related with Delayed speech and language development and Astigmatism

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


Top matches:

Low match DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Low match 1P21.3 MICRODELETION SYNDROME

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as del(1)p(21.3); monosomy 1p21.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET

More info about 1P21.3 MICRODELETION SYNDROME

Low match SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO

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Other less relevant matches:

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment


SOURCES: OMIM UMLS MONDO MESH GARD

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Low 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

Low match SOTOS SYNDROME 2; SOTOS2

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome;sotos syndrome 2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SOTOS SYNDROME 2; SOTOS2

Low 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

Low 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

Low match CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR Is also known as ;

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET UMLS

More info about CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR

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

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
Myopia Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Microcephaly Nystagmus Hypermetropia Deeply set eye Seizures Scoliosis Full cheeks Hypoplasia of the corpus callosum Micrognathia Esotropia Muscular hypotonia of the trunk Autosomal recessive inheritance Macrocephaly Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Prominent forehead Downturned corners of mouth Cerebral atrophy Infantile onset Hyperreflexia Synophrys Cerebellar hypoplasia Optic disc pallor Limb hypertonia Brachycephaly Downslanted palpebral fissures Long philtrum Depressed nasal bridge Optic atrophy Oxycephaly Mandibular prognathia Coarse facial features Broad forehead Anxiety Visual impairment Postnatal microcephaly Cortical visual impairment Hypertelorism Low anterior hairline Poor speech Aggressive behavior Mild microcephaly Dystonia Progressive Spasticity Cognitive impairment Upslanted palpebral fissure Motor delay Growth delay Bulbous nose Coxa valga Cutis marmorata Overgrowth Abnormal electroretinogram Progressive microcephaly Abnormality of visual evoked potentials Gingival overgrowth Corpus callosum atrophy Accelerated skeletal maturation Short upper lip Narrow face Everted lower lip vermilion Long face Advanced eruption of teeth High forehead Narrow mouth Pectus excavatum Ventriculomegaly Talipes valgus Hypoplasia of the brainstem Involuntary movements Hypertrichosis Prominent fingertip pads Chorea Long fingers Sensorineural hearing impairment Cryptorchidism Smooth philtrum Hearing impairment Impaired mastication Slender finger Obsessive-compulsive behavior Drooling Short neck Midface retrusion Constipation Abnormality of the foot Posteriorly rotated ears Dental crowding Hyperactivity Abnormality of the pinna Attention deficit hyperactivity disorder Thick eyebrow Anal atresia Hyporeflexia Feeding difficulties Anteverted nares Abnormality of the skeletal system Kyphosis Short philtrum Retrognathia Cerebellar atrophy Hirsutism Hypospadias Inverted nipples Agitation Autism Hyperlordosis Sleep disturbance Wide nasal bridge Dolichocephaly Arthrogryposis multiplex congenita Joint hypermobility Short nose Intellectual disability, mild Behavioral abnormality Obesity Wide mouth Autistic behavior Broad nasal tip Abnormal posturing Abnormality of vision Self-injurious behavior Self-mutilation Shyness Long ear Abnormal eating behavior Retrocollis Craniofacial dystonia Reduced visual acuity Abnormality of eye movement Short stature Dysarthria Gait disturbance Tremor Myoclonus Clonus Clumsiness Oromandibular dystonia Torticollis Dysphonia Toe walking Limb dystonia Generalized dystonia Laryngeal dystonia Agenesis of corpus callosum Spastic paraplegia Gastroesophageal reflux Adrenal medullary hypoplasia Megalencephaly Scaphocephaly Patellar dislocation Celiac disease Cortical tubers Patellar subluxation Flexion contracture Pointed chin Talipes equinovarus Dysphagia Pes cavus Congenital onset Absent speech Gait ataxia Abnormality of the musculature Psychosis Paraplegia Wide intermamillary distance Delayed myelination Plagiocephaly Partial agenesis of the corpus callosum Dilation of lateral ventricles Ptosis Pallor Low posterior hairline Cerebral calcification Long eyelashes Amblyopia Hypoplasia of the pons Congenital microcephaly Broad finger Hydrocephalus Depressivity Laryngotracheomalacia



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