Macrocephaly, and Delayed speech and language development

Diseases related with Macrocephaly and Delayed speech and language development

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

Other less relevant matches:

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Medium match FG SYNDROME 2; FGS2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM 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 monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Megalencephaly Intellectual disability, mild Motor delay

Rare Symptoms - Less than 30% cases

Aggressive behavior Obesity Short nose Behavioral abnormality Autistic behavior Abnormal facial shape Cryptorchidism Protruding ear Poor speech Tall stature Large forehead Hypertelorism Relative macrocephaly Failure to thrive Autism Broad nasal tip Hyperactivity Microcephaly Dysphagia Ventriculomegaly Strabismus Absent speech Posteriorly rotated ears Microtia Astigmatism Joint hypermobility Proptosis Full cheeks Abnormality of vision Self-injurious behavior Immunodeficiency Epicanthus Facial asymmetry Self-mutilation Underdeveloped superior crus of antihelix Frontal upsweep of hair Long ear Anteriorly placed anus Shyness Abnormality of the foot Speech apraxia Delayed ability to walk Broad forehead Language impairment Micrognathia Delayed gross motor development Drooling Stereotypy Open mouth Apraxia Delayed myelination Abnormality of the pinna Attention deficit hyperactivity disorder Nystagmus Irritability Intellectual disability, moderate Myopia Anxiety Retrognathia Upslanted palpebral fissure Deeply set eye Wide mouth Downslanted palpebral fissures Febrile seizures Long face Neonatal hypotonia Tremor Choreoathetosis Abnormality of extrapyramidal motor function Bradykinesia Cerebral calcification Parkinsonism Dyskinesia Abnormality of movement Neurological speech impairment Rigidity Dementia Dysarthria Resting tremor Cognitive impairment Thick corpus callosum Frontoparietal polymicrogyria Perisylvian polymicrogyria Postaxial hand polydactyly Postaxial polydactyly Polymicrogyria Polydactyly Hydrocephalus Short stature Slurred speech Lewy bodies Constipation Diffuse swelling of cerebral white matter Abnormal heart morphology Cupped ear Pointed chin Triangular face Pes planus Macrotia Pectus excavatum Kyphosis Muscular hypotonia Diffuse spongiform leukoencephalopathy Abnormal muscle tone Shuffling gait Motor deterioration Leukoencephalopathy Leukodystrophy Progressive neurologic deterioration Progressive cerebellar ataxia Abnormality of the cerebral white matter Mental deterioration Dystonia Spasticity Ataxia Cogwheel rigidity Abnormal eating behavior


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