Motor delay, and Astigmatism

Diseases related with Motor delay and Astigmatism

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


Top matches:

Medium match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Medium 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:

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


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Medium match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

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Other less relevant matches:

Medium match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


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).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Medium match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Medium match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Low match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Top 5 symptoms//phenotypes associated to Motor delay and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Astigmatism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Microcephaly Seizures Cryptorchidism Thin upper lip vermilion Abnormal facial shape Deeply set eye Nystagmus Hypermetropia Short stature Wide nasal bridge Delayed ability to walk High palate Broad nasal tip Hypertelorism Hyperreflexia Myopia Delayed myelination

Rare Symptoms - Less than 30% cases


Long fingers Obesity Pain Depressed nasal bridge Epicanthus Prominent forehead Optic disc pallor Autism Neonatal hypotonia Wide mouth Intrauterine growth retardation Long philtrum Ventriculomegaly Anteverted nares Ptosis Retrognathia Micropenis Muscular hypotonia of the trunk Downturned corners of mouth Long face Spasticity Dysarthria Coxa valga Mild microcephaly Myoclonus Hyperactivity Gastroesophageal reflux Esotropia Growth delay Synophrys Accelerated skeletal maturation High forehead Hypotelorism Rhizomelia Scaphocephaly Scrotal hypoplasia Metaphyseal widening Abnormal cardiac septum morphology 2-3 toe syndactyly Generalized tonic-clonic seizures Hypospadias Gait ataxia Cleft palate Neutropenia Generalized myoclonic seizures Epileptic encephalopathy Ventricular septal defect Hypsarrhythmia Status epilepticus Broad-based gait Cerebral visual impairment Obsessive-compulsive behavior Feeding difficulties Enlarged cisterna magna Failure to thrive Micrognathia Cataract Short palpebral fissure Obstructive sleep apnea Abnormality of the genitourinary system Neurological speech impairment Dysmetria Triangular face Vesicoureteral reflux Decreased fetal movement Apraxia Stereotypy Short chin Poor head control Posteriorly rotated ears Deep philtrum Overfolded helix Myopathic facies Inverted nipples Pain insensitivity Oval face Horizontal eyebrow Overfolding of the superior helices Prominent nasal bridge Cerebellar hypoplasia Broad femoral neck Short metacarpal Brachydactyly Frontal bossing Abnormality of the skeletal system Short neck Malar flattening Severe global developmental delay Thin vermilion border Short foot Laryngomalacia Cerebellar atrophy Short metatarsal Underdeveloped supraorbital ridges Pseudohypoparathyroidism Infra-orbital crease Frontal hirsutism Ataxia Low-set ears Dysphagia Autistic behavior Amblyopia Behavioral abnormality Short philtrum Oromandibular dystonia Abnormal posturing Craniofacial dystonia Retrocollis Intellectual disability, severe Sparse hair Blepharophimosis Broad forehead Generalized dystonia Poor speech Fine hair Narrow palpebral fissure Language impairment Long palpebral fissure Self-mutilation Fair hair Laryngeal dystonia Limb dystonia Long toe Tremor Hypertonia Hernia Meningitis Hiatus hernia Exaggerated startle response Glabellar reflex Cognitive impairment Gait disturbance Toe walking Dystonia Abnormality of the eye Abnormality of eye movement Bulbous nose Clumsiness Torticollis Dysphonia Tics Inappropriate laughter Visual impairment Narrow mouth Abnormality of visual evoked potentials Hypoplasia of the pons Congenital microcephaly Broad finger Scoliosis Macrocephaly Pectus excavatum Mandibular prognathia Frequent falls Anxiety Everted lower lip vermilion Overgrowth Narrow face Cutis marmorata Advanced eruption of teeth Anemia Long eyelashes Low posterior hairline Hypoplasia of the corpus callosum Plagiocephaly Cerebral atrophy Agenesis of corpus callosum Reduced visual acuity Polyhydramnios Spastic paraplegia Paraplegia Full cheeks Delayed gross motor development Wide intermamillary distance Progressive spastic paraplegia Partial agenesis of the corpus callosum Limb hypertonia Dilation of lateral ventricles Abnormal CNS myelination Esophoria Pallor Broad chin



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