Delayed speech and language development, and Narrow forehead

Diseases related with Delayed speech and language development and Narrow forehead

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

Related symptoms:

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


SOURCES: UMLS MONDO OMIM ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

High match MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment


SOURCES: OMIM MONDO UMLS MESH

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

High match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

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Other less relevant matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 Is also known as ;epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge


SOURCES: OMIM ORPHANET UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23

High match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA Is also known as birk-flusser syndrome;

Related symptoms:

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


SOURCES: ORPHANET MONDO UMLS OMIM

More info about CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

High match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM DOID MONDO

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

High match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly

Related symptoms:

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


SOURCES: MONDO OMIM DOID UMLS

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 Is also known as encephalopathy, fatal infantile, with mitochondrial respiratory chain defects;fatal infantile encephalopathy with mitochondrial respiratory chain defects; pch6

Related symptoms:

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


SOURCES: ORPHANET SCTID MESH GARD DOID UMLS MONDO OMIM

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

High match SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51

Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011).

SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 Is also known as cerebral palsy, spastic quadriplegic, 4, formerly;cpsq4, formerly

Related symptoms:

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


SOURCES: UMLS MONDO OMIM DOID

More info about SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Intellectual disability, severe Hyperreflexia Hypoplasia of the corpus callosum Wide nasal bridge Congenital onset Spasticity Short stature Growth delay Cerebellar hypoplasia Anteverted nares Ataxia Short philtrum Hypertonia Poor speech Abnormal facial shape Feeding difficulties Nystagmus Cerebellar atrophy Ventriculomegaly Failure to thrive Dysarthria Bulbous nose

Rare Symptoms - Less than 30% cases


Thick eyebrow Abnormal cerebellum morphology Coarse facial features Cortical visual impairment Generalized seizures Abnormality of the pinna Flexion contracture Neonatal hypotonia Wide mouth Prominent nasal bridge Low anterior hairline Deeply set eye Babinski sign Long eyelashes Cerebral cortical atrophy Spastic paraplegia Facial hypotonia Thick lower lip vermilion Cerebellar vermis hypoplasia Spastic tetraplegia Febrile seizures Micrognathia Tetraplegia Cerebral atrophy Intrauterine growth retardation Dysmetria Talipes equinovarus Drooling Partial agenesis of the corpus callosum Highly arched eyebrow Polymicrogyria Agenesis of corpus callosum Hearing impairment Visual impairment Hyperactivity Encephalopathy Optic atrophy Progressive Decreased muscle mass Inability to walk Excessive salivation Increased CSF lactate Genu recurvatum Upper limb spasticity Pes planus Abnormality of the periventricular white matter Protruding tongue Infantile encephalopathy Open mouth Pointed chin Small posterior fossa Waddling gait Downslanted palpebral fissures Everted upper lip vermilion Talipes Long nose Narrow face Paraplegia Slow progression Acetabular dysplasia Generalized myoclonic seizures Upper airway obstruction Hypotelorism Full cheeks Lethargy Progressive visual loss Lower limb spasticity Apnea Visual loss Progressive microcephaly Clinodactyly Edema Small earlobe Thickened helices Hallux valgus Failure to thrive in infancy Narrow palate Increased serum lactate Adducted thumb Poor head control Eczema Autistic behavior Poor suck Severe global developmental delay Small for gestational age Global brain atrophy Autism Atrophy/Degeneration affecting the brainstem Death in childhood Macrotia Gait disturbance Autosomal dominant inheritance Sparse hair Dystonia Unilateral polymicrogyria Dysmetric saccades Brisk reflexes Status epilepticus Apraxia Hip dysplasia Unsteady gait Osteopenia Gait ataxia Prominent forehead Osteoporosis Tremor Myopia Cognitive impairment Hypertelorism Small cerebral cortex Blindness Prominent glabella Hypoplasia of the frontal lobes Thick corpus callosum Cortical gyral simplification Cortical dysplasia Sloping forehead Neurological speech impairment Attention deficit hyperactivity disorder Intellectual disability, moderate Proptosis Motor delay Progressive spasticity Postnatal microcephaly Generalized tonic-clonic seizures Infantile onset Arrhythmia High palate Aplasia/Hypoplasia of the corpus callosum Muscular hypotonia Minimal change glomerulonephritis Focal segmental glomerulosclerosis Glomerulosclerosis Esotropia Arachnodactyly Nephrotic syndrome Proteinuria Scoliosis Upper eyelid edema Nonprogressive cerebellar ataxia Congenital microcephaly Limb hypertonia Palpebral edema Hirsutism Telecanthus Everted lower lip vermilion Low-set, posteriorly rotated ears Protruding ear Posteriorly rotated ears Low-set ears Strabismus Periorbital fullness Hypoplasia of the pons Epileptic encephalopathy Hypsarrhythmia Broad nasal tip Thick vermilion border Abnormality of the cerebral white matter Synophrys Prominent antihelix



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