High palate, and Cerebral cortical atrophy

Diseases related with High palate and Cerebral cortical atrophy

In the following list you will find some of the most common rare diseases related to High palate and Cerebral cortical atrophy that can help you solving undiagnosed cases.

Top matches:

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Other less relevant matches:

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Medium match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Top 5 symptoms//phenotypes associated to High palate and Cerebral cortical atrophy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Cerebellar atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Cerebral cortical atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Cerebellar hypoplasia Flexion contracture Strabismus Scoliosis Delayed speech and language development Visual impairment Short stature Anteverted nares Neonatal hypotonia Muscular hypotonia of the trunk Abnormal facial shape Low-set ears Ataxia Downslanted palpebral fissures Ventriculomegaly Hyperreflexia Kyphosis Long philtrum Wide nasal bridge Coarse facial features Macrocephaly Hypertonia Short nose Abnormality of the cerebral white matter Cryptorchidism Muscular hypotonia Cataract Intellectual disability, severe Delayed myelination Progressive microcephaly Talipes equinovarus Cerebral atrophy Gait ataxia Proptosis Macrotia Protruding ear Hirsutism Abnormal cerebellum morphology Low anterior hairline Talipes Spastic tetraplegia Tetraplegia

Rare Symptoms - Less than 30% cases

Central hypotonia Dysarthria Prominent forehead Narrow forehead Cerebral visual impairment Apraxia Tremor Hypsarrhythmia Tetraparesis Posteriorly rotated ears Hyperactivity Edema Babinski sign Hypertrichosis Motor delay Severe global developmental delay Synophrys Generalized hirsutism Lissencephaly Decreased muscle mass Short philtrum Ptosis Congenital cataract Intellectual disability, mild Brisk reflexes Pointed chin Bulbous nose Unsteady gait Autistic behavior Hypertelorism Deeply set eye Narrow mouth Micrognathia Cognitive impairment Spastic tetraparesis Peripheral neuropathy Poor head control Long face Difficulty walking Pes planus High forehead Mandibular prognathia Kyphoscoliosis Progressive spasticity Long fingers Abnormality of movement Limb ataxia Limb joint contracture Broad alveolar ridges Hyperconvex nail Intellectual disability, profound Abnormality of extrapyramidal motor function Single transverse palmar crease Reduced visual acuity Postaxial polydactyly Involuntary movements Pulmonic stenosis Smooth philtrum Coloboma Pectus carinatum Leukoencephalopathy Hypopigmentation of the skin Corneal opacity Neurological speech impairment High, narrow palate Apnea Pachygyria Infantile spasms Abnormal hair pattern Tapered finger Bulbar palsy Dental crowding Relative macrocephaly Broad face Broad philtrum Wide nasal base Hypomimic face Hypospadias Inguinal hernia Agenesis of corpus callosum Abnormality of the genital system Tented upper lip vermilion Renal dysplasia Intellectual disability, progressive Rocker bottom foot Renal hypoplasia/aplasia Prominent supraorbital ridges Poor suck Overlapping toe Abnormality of the hip bone Bilateral ptosis Abnormally large globe Slurred speech Mask-like facies Postural tremor Hydronephrosis Abnormal localization of kidney Microphthalmia Hypogonadism Brachycephaly Retinal coloboma Glaucoma Micropenis Severe postnatal growth retardation Abnormality of visual evoked potentials Cerebellar vermis atrophy Cortical dysplasia Spastic diplegia Upper limb spasticity Low-set, posteriorly rotated ears Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Joint stiffness Abnormality of retinal pigmentation Delayed puberty Polymicrogyria Postnatal microcephaly Microcornea Decreased testicular size Hypoplasia of penis Intrauterine growth retardation Contractures of the large joints Rigidity Scanning speech Cerebellar vermis hypoplasia Aniridia Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Speech apraxia Titubation Abnormality of the pulmonary artery Polydactyly Hyperhidrosis Broad distal phalanx of finger Craniofacial asymmetry Exaggerated startle response Pneumonia Truncal titubation Respiratory insufficiency Dysphagia Frontal cortical atrophy Feeding difficulties Failure to thrive Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Central apnea Short palpebral fissure Hypoplastic hippocampus Neuronal loss in central nervous system Delayed fine motor development Highly arched eyebrow Brain atrophy Underdeveloped nasal alae Esotropia Long eyelashes Sensorimotor neuropathy Delayed gross motor development Cortical gyral simplification Long palpebral fissure Poor eye contact Abnormality of brainstem morphology Abnormality of the cerebral cortex Thin upper lip vermilion Visual fixation instability Depressed nasal bridge Skeletal muscle atrophy Blindness Narrow chest Sloping forehead Clonus Narrow palate Plagiocephaly Multiple joint contractures Hypoventilation Central hypoventilation Irritability Encephalopathy Gastroesophageal reflux Lumbar hyperlordosis Myopia Frontal bossing Hydrocephalus Malar flattening Upslanted palpebral fissure Joint laxity Hyperlordosis Prominent nasal bridge Arachnodactyly Triangular face Overgrowth High myopia Tall stature Growth delay Sparse eyebrow Large hands Disproportionate tall stature Megalencephaly Long foot Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Constipation Aggressive behavior Macroglossia Everted upper lip vermilion Stereotypy Narrow face Drooling Long nose Progressive spastic paraplegia Abnormality of the periventricular white matter Overweight Genu recurvatum Facial hypotonia Generalized joint laxity Spastic dysarthria Acetabular dysplasia Shyness Waddling gait Prominent antihelix Hearing impairment Sensorineural hearing impairment Epicanthus Brachydactyly Clinodactyly Hyporeflexia Hepatosplenomegaly Camptodactyly Inability to walk Thick vermilion border Delayed eruption of teeth Amblyopia Paraplegia Abnormal pyramidal sign Abnormal cortical gyration Broad forehead Dysmetria Wide nose Broad nasal tip Generalized myoclonic seizures Memory impairment Intention tremor Thick lower lip vermilion Depressed nasal ridge Infantile muscular hypotonia Palpebral edema Large forehead Impaired social interactions Poor speech Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Segmental myoclonic seizures Dystonia Wide mouth Spastic paraplegia Progressive leukoencephalopathy


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