High palate, and Apraxia

Diseases related with High palate and Apraxia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

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

Other less relevant matches:

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

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

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Apraxia

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 Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Apraxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Macrocephaly Cerebellar hypoplasia Depressed nasal bridge Anteverted nares Hypoplasia of the corpus callosum Scoliosis Strabismus Abnormal facial shape Muscular hypotonia Muscular hypotonia of the trunk Nystagmus Intellectual disability, mild Spasticity Micrognathia Neonatal hypotonia Cerebral atrophy Delayed myelination Upslanted palpebral fissure Epicanthus Inability to walk Hypoplasia of the brainstem Oculomotor apraxia Patent foramen ovale Gastroesophageal reflux Kyphoscoliosis EEG abnormality Thick vermilion border Low-set ears Hypertelorism Cataract Hydrocephalus Dental crowding Camptodactyly Feeding difficulties Tremor Delayed speech and language development Cerebellar atrophy Frontal bossing Abnormal cerebellum morphology Postnatal microcephaly Apnea Cognitive impairment Speech apraxia

Rare Symptoms - Less than 30% cases

Autistic behavior Flexion contracture Mandibular prognathia Relative macrocephaly Coloboma Abnormality of the cerebral white matter Wide mouth High, narrow palate Cerebral cortical atrophy Downslanted palpebral fissures Babinski sign Clinodactyly Talipes equinovarus Autism Hyperreflexia Kyphosis Abnormality of the dentition Cryptorchidism Esotropia Micropenis Myopia Visual impairment Ventriculomegaly Motor delay Wide nasal bridge Failure to thrive Dystonia Dysarthria Slender build Spastic paraplegia Abnormality of the foot Macrotia Gait ataxia Dandy-Walker malformation Optic atrophy Hypermetropia Hearing impairment Progressive microcephaly Long philtrum Hypothyroidism Attention deficit hyperactivity disorder Open mouth Clumsiness Paraparesis Intellectual disability, severe Blindness Encephalopathy Myoclonus Prominent forehead Small hand Stereotypy Broad forehead Bruxism Poor eye contact Abnormal heart morphology Aggressive behavior Joint laxity Abnormality of the pharynx Abnormality of cardiovascular system morphology Hypocholesterolemia Abnormal renal morphology Abnormal cardiac septum morphology Abnormality of chromosome segregation Echolalia Bipolar affective disorder High hypermetropia Short philtrum Neonatal breathing dysregulation Dysphagia Delayed puberty Poor speech Long face Prominent nose Intention tremor Clonus Widely spaced teeth Poor suck Dysphasia Nasal speech Hyperactivity Hallux valgus Pes planus Low-set, posteriorly rotated ears Thickened calvaria Adducted thumb Abnormality of eye movement Enlarged fossa interpeduncularis Webbed neck Short stature Central sleep apnea Hypotelorism Heterotopia Lissencephaly Plagiocephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Expressive language delay Scrotal hypoplasia Pleural effusion Patent ductus arteriosus Overlapping toe Pericardial effusion Cystic hygroma Overlapping fingers Cerebellar dysplasia Hand clenching Kinked brainstem Prominent nasal tip Cleft palate Ventricular septal defect Poor fine motor coordination Malar flattening Thickened superior cerebellar peduncle Narrow mouth Ankylosis Abnormality of the kidney Smooth philtrum Congenital blindness Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Impaired smooth pursuit Optic nerve coloboma Abnormality of the cardiovascular system Dental malocclusion Bifid uvula Central apnea Agenesis of cerebellar vermis Triangular face Hypoplasia of the maxilla Small for gestational age Acute kidney injury Dysgenesis of the cerebellar vermis Abnormal renal physiology Abnormal corpus callosum morphology Arthrogryposis multiplex congenita Accessory oral frenulum Feeding difficulties in infancy Anxiety Abnormal saccadic eye movements Metopic synostosis Abnormality of ocular smooth pursuit Hypoplastic male external genitalia Elongated superior cerebellar peduncle Episodic tachypnea Failure to thrive in infancy Nephronophthisis Mild global developmental delay Brainstem dysplasia Right ventricular hypertrophy Open bite Left ventricular noncompaction Perseveration Abnormality of dental morphology Oral-pharyngeal dysphagia Noncommunicating hydrocephalus Language impairment Increased head circumference Deviated nasal septum Trigonocephaly Renal insufficiency Microphthalmia Polydactyly External genital hypoplasia Craniosynostosis Retinopathy Dolichocephaly Postaxial polydactyly Retinal dystrophy Renal cyst Postaxial hand polydactyly Encephalocele Renal dysplasia Hepatic fibrosis Abnormal electroretinogram Chorioretinal coloboma Molar tooth sign on MRI Rotary nystagmus Olivopontocerebellar hypoplasia Retrognathia Short palpebral fissure Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Sensorineural hearing impairment Brachydactyly Hyporeflexia Coarse facial features Hepatosplenomegaly Talipes Delayed eruption of teeth Macroglossia Neuronal loss in central nervous system Hypertrichosis Hyperventilation Broad face Broad philtrum Wide nasal base Growth delay Gait disturbance Short neck Pneumonia Pes cavus Abnormal pyramidal sign Genu valgum Paraplegia Tetraplegia Parkinsonism Abnormality of extrapyramidal motor function Developmental stagnation Infantile spasms Psychosis Developmental regression Thin upper lip vermilion Hypoglycemia Protruding ear Generalized tonic-clonic seizures Bradycardia Hyperbilirubinemia Laryngomalacia Impulsivity Inverted nipples Pontocerebellar atrophy Ganglioneuroblastoma Constipation Respiratory failure Deeply set eye Severe global developmental delay Loss of consciousness Short palm Short foot Tapered finger Sleep disturbance Generalized myoclonic seizures Focal-onset seizure Epileptic encephalopathy Sloping forehead Intellectual disability, profound Hypsarrhythmia Thick lower lip vermilion Tetraparesis Cerebral visual impairment Spastic tetraparesis Spastic tetraplegia Choreoathetosis Posteriorly rotated ears Brisk reflexes Congenital cataract Synophrys Pulmonic stenosis Abnormality of movement Unsteady gait Hypopigmentation of the skin Involuntary movements Limb ataxia Low anterior hairline Poor head control Slurred speech Bilateral ptosis Postural tremor Mask-like facies Aniridia Corneal opacity Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Titubation Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Truncal titubation Frontal cortical atrophy Respiratory distress Edema Behavioral abnormality Short nose Neurological speech impairment Reduced visual acuity Spastic gait Hypogonadism Spastic paraparesis Drooling Progressive spasticity Restlessness Poor coordination Facial hypotonia Macroorchidism Shuffling gait Excessive salivation Progressive spastic paraparesis Mania Juvenile cataract Muscle weakness Hypertonia Irritability Ptosis Gliosis Chorea Nevus Ambiguous genitalia Fasciculations Hypergonadotropic hypogonadism Prominent supraorbital ridges Clitoral hypertrophy Flat occiput Nevus flammeus Hypoplasia of the pons Thick upper lip vermilion Sex reversal Microphallus Receptive language delay


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Anal atresia, related diseases and genetic alterations Brachydactyly and Facial asymmetry, related diseases and genetic alterations Myopathy and Gliosis, related diseases and genetic alterations