Delayed speech and language development, and Reduced visual acuity

Diseases related with Delayed speech and language development and Reduced visual acuity

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


Top matches:

Low match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Related symptoms:

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


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Low match PORETTI-BOLTSHAUSER SYNDROME; PTBHS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

PORETTI-BOLTSHAUSER SYNDROME; PTBHS Is also known as ;poretti-boltshauser syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO UMLS ORPHANET OMIM

More info about PORETTI-BOLTSHAUSER SYNDROME; PTBHS

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 OPTIC ATROPHY 11; OPA11

OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about OPTIC ATROPHY 11; OPA11

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 Is also known as ;coxpd15

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET OMIM MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Low match LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12 Is also known as ;vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: OMIM MONDO DOID ORPHANET UMLS

More info about LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Low match SKRABAN-DEARDORFF SYNDROME; SKDEAS

SKDEAS is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

SKRABAN-DEARDORFF SYNDROME; SKDEAS Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about SKRABAN-DEARDORFF SYNDROME; SKDEAS

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

Related symptoms:

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


SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

More info about GILLESPIE SYNDROME; GLSP

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Reduced visual acuity

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

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

Common Symptoms - More than 50% cases


Autosomal recessive inheritance

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Absent speech Seizures Ataxia Microcephaly Muscular hypotonia of the trunk Cerebellar atrophy Tremor Ventriculomegaly Hearing impairment Cerebellar hypoplasia Hypoplasia of the corpus callosum Motor delay Delayed myelination Cerebral atrophy Poor speech Spasticity Hypermetropia

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Optic disc pallor Ptosis Limb hypertonia Full cheeks Neurological speech impairment Short stature Leukoencephalopathy Encephalopathy Focal seizures Dysmetria Dysarthria Anteverted nares Unsteady gait Tetraplegia Increased serum lactate Astigmatism Growth delay Constipation Hypertonia Gait ataxia Spastic tetraplegia Myopia Abnormality of the periventricular white matter Apraxia Muscle weakness Infantile onset Esotropia Hyperreflexia Abnormality of the cerebral white matter Hyperplasia of the maxilla Mitochondrial encephalopathy Micrognathia Depressed nasal bridge Spastic paraplegia Feeding difficulties Intellectual disability, severe Abnormality of the skeletal system Coarse facial features Wide mouth Otitis media Recurrent otitis media Pachygyria Multifocal seizures Brisk reflexes Diffuse cerebral atrophy Acidosis Intrauterine growth retardation Skeletal muscle atrophy Cardiomyopathy Dystonia Thrombocytopenia Rod-cone dystrophy Rigidity Epileptic spasms Hypoglycemia Aggressive behavior Abnormality of the dentition Lactic acidosis Athetosis Exotropia Generalized amyotrophy Widely spaced teeth Happy demeanor Sparse lateral eyebrow Hypoplasia of the fovea Postural tremor Mask-like facies Bilateral ptosis Slurred speech Hearing abnormality Aniridia Hypoplasia of the iris Low anterior hairline Speech apraxia Broad distal phalanx of finger Hyperconvex nail Scanning speech Abnormality of the pulmonary artery Mydriasis Craniofacial asymmetry Involuntary movements Hypopigmentation of the skin Oromotor apraxia Mandibular prognathia Pineal cyst Pica Muscular hypotonia Cataract Nevus Intellectual disability, mild Cerebral cortical atrophy Coloboma Abnormal cerebellum morphology Congenital cataract Corneal opacity Synophrys Abnormality of movement Facial asymmetry Pulmonic stenosis High, narrow palate Myopathy Developmental stagnation Diffuse white matter abnormalities Midface retrusion Congenital microcephaly Broad finger Cerebellar cyst Abnormal facial shape Abnormally large globe Macrocephaly Retinal atrophy Hypoplasia of the pons Oxycephaly Macrotia Hyperactivity Oculomotor apraxia Brain atrophy Heterotopia Mild microcephaly Long eyelashes Hyperkinesis Autosomal dominant inheritance Deeply set eye Prominent forehead Agenesis of corpus callosum Plagiocephaly Partial agenesis of the corpus callosum Dilation of lateral ventricles Retinal thinning Low posterior hairline Dilated fourth ventricle Long philtrum Cerebellar dysplasia Thin upper lip vermilion Pallor Wide intermamillary distance Facial diplegia Abnormality of the basal ganglia Temperature instability Focal seizures with impairment of consciousness or awareness Psychosis Severe global developmental delay Febrile seizures Cortical visual impairment Postnatal microcephaly CNS hypomyelination Multiple joint contractures Open bite Abnormal autonomic nervous system physiology Central hypotonia Delayed CNS myelination Paraplegia Neurogenic bladder Cerebral hypomyelination Dental crowding Short attention span Cognitive impairment Abnormality of eye movement Cerebellar vermis hypoplasia Ventricular septal defect High myopia Obesity Retinal dystrophy Abnormal pyramidal sign Elevated serum creatine phosphokinase Flexion contracture Intention tremor Incoordination Pituitary adenoma Increased CSF lactate Wolff-Parkinson-White syndrome Sensorineural hearing impairment Frontal cortical atrophy



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