Cleft palate, and Chorea

Diseases related with Cleft palate and Chorea

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

Top matches:

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Other less relevant matches:

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

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

Top 5 symptoms//phenotypes associated to Cleft palate and Chorea

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

Other less frequent symptoms

Patients with Cleft palate and Chorea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Gait ataxia Hearing impairment Short neck Hypoplasia of the corpus callosum Ataxia Cerebellar atrophy Micrognathia Low-set ears Short stature Feeding difficulties Aggressive behavior Choreoathetosis Hyperreflexia Ventriculomegaly Bruxism Atrial septal defect Cognitive impairment Intellectual disability, severe Tapered finger Muscular hypotonia of the trunk Cerebral atrophy Encephalopathy Posteriorly rotated ears Abnormality of the pinna Patent ductus arteriosus Behavioral abnormality Retrognathia Cerebral visual impairment Visual impairment Dystonia Hernia Brachycephaly Ventricular septal defect Hydrocephalus

Rare Symptoms - Less than 30% cases

Bicuspid aortic valve Arnold-Chiari malformation Purpura Hypocalcemia Schizophrenia Renal dysplasia Involuntary movements Primary amenorrhea Nasal speech Low posterior hairline Psychosis Cholelithiasis Tetralogy of Fallot Rheumatoid arthritis Amenorrhea Spina bifida Renal agenesis Specific learning disability Umbilical hernia Abnormality of cardiovascular system morphology Thrombocytopenia Obesity Abnormal heart morphology Inguinal hernia Hyperactivity Hypothyroidism Arthritis Syndactyly Anxiety Clinodactyly EEG abnormality Autoimmunity Dysmetria Bulbous nose Hemolytic anemia Bifid uvula Psoriasiform dermatitis Joint hypermobility Inability to walk Arteria lusoria Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Hypsarrhythmia Graves disease Nystagmus Right aortic arch with mirror image branching Sacral meningocele Failure to thrive Strabismus Ptosis Flexion contracture Interrupted aortic arch Aplasia of the uterus Unilateral renal agenesis Vitiligo Acne Immunodeficiency Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Seborrheic dermatitis Generalized-onset seizure Meningocele Epileptic encephalopathy Truncus arteriosus Myelomeningocele Small hand Juvenile rheumatoid arthritis Recurrent infections Blepharophimosis Macrotia Open mouth Hypertelorism Focal impaired awareness seizure Hydronephrosis Pulmonary hypoplasia Cleft lip Amblyopia Abnormality of movement Narrow forehead Microphthalmia Congenital diaphragmatic hernia Delayed myelination Vesicoureteral reflux Tetraparesis Short palpebral fissure Short chin Spastic tetraparesis Anal atresia Spastic tetraplegia Synophrys Abnormal pyramidal sign Fever Anemia Hypertonia Cataract Muscular hypotonia Depressed nasal bridge Toe syndactyly Wide nasal bridge Tremor Macrocephaly Tetraplegia Anal stenosis Epicanthus Methylmalonic acidemia Clumsiness Abnormality of extrapyramidal motor function Motor delay Apraxia Postnatal microcephaly Mania Homocystinuria Restlessness Methylmalonic aciduria Dysarthria Paraparesis Spastic gait Accommodative esotropia Anterior segment developmental abnormality Hypoplasia of the thymus Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Esophoria Decreased circulating parathyroid hormone level Athetosis Parathyroid hypoplasia Parathyroid agenesis Progressive spasticity Drooling Type I truncus arteriosus Spastic paraparesis Acidosis Progressive cerebellar ataxia Hypermetropia Increased body weight Parkinsonism Sclerocornea Paraplegia Myoclonus Low frustration tolerance Pain Disproportionate tall stature Blindness Global brain atrophy Self-injurious behavior Progressive microcephaly Constipation Status epilepticus Hypotelorism Autism Infantile spasms Febrile seizures Dyskinesia Thick eyebrow Abnormality of eye movement Deeply set eye Shuffling gait Intellectual disability, moderate Abnormality of the eye Autistic behavior Slender build Progressive spastic paraparesis Delayed ability to walk Genu valgum Dilated fourth ventricle Poor coordination Facial hypotonia Spastic paraplegia Pes cavus Pneumonia Babinski sign Diplopia Incoordination Excessive salivation Cerebellar vermis atrophy Pes planus Atonic seizures Kyphosis Intellectual disability, mild Macroorchidism Abnormality of the dentition Gait disturbance Growth delay Everted lower lip vermilion Inappropriate crying Oculogyric crisis Profound global developmental delay Tetany Apathy Exotropia Abnormality of the urinary system Wide mouth Abnormal cardiac septum morphology Prominent nasal bridge Thin vermilion border Flat face Short distal phalanx of finger Short foot Brain atrophy Focal-onset seizure Tented upper lip vermilion Patent foramen ovale Coarse facial features Overfolded helix Cupped ear Prominent occiput Cystic hygroma Limb hypertonia Hydrocele testis Vertical nystagmus Hoarse cry Large fleshy ears Hypospadias Neonatal hypotonia Gastroesophageal reflux Dementia Severe global developmental delay Brachydactyly Pectus excavatum Kyphoscoliosis Joint laxity Pectus carinatum Blue sclerae Rotary nystagmus Ankyloglossia Cryptorchidism Sparse hair Wide nose Polyhydramnios Broad nasal tip Anophthalmia Bicornuate uterus Hypoplastic left atrium Frontal bossing Anteverted nares Splenomegaly Short nose Long philtrum Hyporeflexia Upslanted palpebral fissure Depressivity Conductive hearing impairment Broad thumb Telecanthus Velopharyngeal insufficiency Psychotic episodes Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Neoplasm Narrow mouth Abnormality of the kidney Paranoia Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Microtia Generalized tonic-clonic seizures Astigmatism Polymicrogyria Iris coloboma High, narrow palate Coarctation of aorta Giant platelets Mood swings Mental deterioration Obsessive-compulsive behavior Congenital cataract Pulmonic stenosis Underdeveloped nasal alae Peripheral demyelination Hallucinations Multicystic kidney dysplasia Narrow palpebral fissure Holoprosencephaly Abnormality of the hand Dysdiadochokinesis Hypoplasia of the brainstem Platybasia Myopathic facies Abnormality of the ear Basal ganglia calcification Axonal loss Submucous cleft hard palate Hearing abnormality Delusions Pierre-Robin sequence Echolalia Abnormality of the endocrine system Pulmonary artery atresia Juvenile cataract


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