High palate, and Irritability

Diseases related with High palate and Irritability

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

Top matches:

High match CK SYNDROME

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

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

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Other less relevant matches:

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

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertonia

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Wide nasal bridge Delayed speech and language development Epicanthus Strabismus Micrognathia Ventriculomegaly Hyperreflexia Visual impairment Intrauterine growth retardation Optic atrophy Absent speech Growth delay Feeding difficulties Delayed myelination Nystagmus Abnormality of the cerebral white matter Kyphosis Long philtrum Motor delay Hypertelorism Progressive microcephaly Short stature Gait disturbance Cerebral atrophy Ptosis Muscular hypotonia Anxiety Vomiting Anemia Talipes equinovarus Polyhydramnios Cataract Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Hyporeflexia Brain atrophy Hypoplasia of the brainstem Depressed nasal bridge Macrotia Apnea Pain Renal insufficiency Full cheeks Hyperlordosis Hyperactivity Aggressive behavior Sleep disturbance Retrognathia Abnormal facial shape Cryptorchidism Upslanted palpebral fissure Scoliosis Malar flattening Prominent nasal bridge

Rare Symptoms - Less than 30% cases

Chorea Trismus Abnormality of immune system physiology Flexion contracture Low-set ears Diarrhea Dystonia Cleft palate Hepatitis Dental malocclusion Gliosis Cerebellar hypoplasia Flat occiput Umbilical hernia Nephrolithiasis Prominent supraorbital ridges Malignant hyperthermia Respiratory insufficiency Dental crowding Feeding difficulties in infancy EEG abnormality Gastroesophageal reflux Limitation of joint mobility Hypothyroidism Hypohidrosis Adducted thumb Dolichocephaly Hypermetropia Blepharophimosis Camptodactyly Anteverted nares Pes planus Obesity Midface retrusion Hepatic failure Narrow mouth Polymicrogyria Pachygyria Abnormality of the dentition Short neck Muscle weakness Highly arched eyebrow Behavioral abnormality Respiratory distress Arthrogryposis multiplex congenita Headache Nephropathy Acidosis Genu valgum Recurrent infections Short nose Myopathy Edema Encephalopathy Spastic tetraplegia Cerebral cortical atrophy Platyspondyly Joint stiffness Poor eye contact Delayed skeletal maturation Poor head control Osteoporosis Long eyelashes Esotropia Underdeveloped nasal alae Tetraplegia Dehydration Autism Abnormality of neuronal migration Episodic fever Opisthotonus Wormian bones Severe muscular hypotonia Abnormality of the metaphysis Abnormality of epiphysis morphology Coxa valga Osteopenia Abnormal heart morphology Micromelia Pulmonary arterial hypertension Bowing of the long bones Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Myalgia Decreased body weight Reduced pancreatic beta cells Increased bone mineral density Neurological speech impairment Pectus carinatum Low-set, posteriorly rotated ears Elevated serum creatine phosphokinase Intracerebral periventricular calcifications Abnormality of the ribs Skeletal dysplasia Myopia Irregular tarsal ossification Inguinal hernia Ivory epiphyses of the toes Arrhythmia Pectus excavatum Decreased testicular size Thyroid dysgenesis Microcornea Everted lower lip vermilion Skeletal muscle atrophy Flat face Hip dysplasia Thoracolumbar kyphosis Irregular carpal bones Blue sclerae Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Short thorax Spondyloepiphyseal dysplasia Preauricular pit Hyperglycemia Epiphyseal dysplasia Type I diabetes mellitus Microdontia Exocrine pancreatic insufficiency Triangular face Recurrent fractures Coma Neutropenia Thin vermilion border Hip dislocation Elevated hepatic transaminase Hypoglycemia Hepatosplenomegaly Jaundice Hypoplasia of the odontoid process Insulin-resistant diabetes mellitus Bilateral coxa valga EMG abnormality Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Flattened epiphysis Narrow iliac wings Carpal bone hypoplasia Overweight Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Irregular vertebral endplates Low anterior hairline Blepharospasm Generalized hirsutism Albuminuria Joint contracture of the hand Postnatal microcephaly Heterotopia Small nail Hypsarrhythmia Abnormality of the intervertebral disk Nephrotic syndrome Hypotelorism Oligohydramnios Congenital nephrotic syndrome Narrow forehead Opacification of the corneal stroma Sloping forehead Dandy-Walker malformation Prominent nose Premature birth Ascites Hypopigmentation of the skin Hematuria Inability to walk Arachnodactyly Talipes Poor speech Aspiration Lissencephaly Encephalomalacia Adrenal hypoplasia Diaphragmatic eventration Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Diffuse mesangial sclerosis Hyperkinesis Hiatus hernia Hypoplasia of the iris Proportionate short stature Congenital hypothyroidism Slender finger Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Axial dystonia Abnormality of eye movement Abnormality of the foot Coxa vara Increased number of teeth Weak voice Wrist flexion contracture Distichiasis Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Narrow nasal ridge Abnormal eyebrow morphology Sprengel anomaly Abnormality of the ureter Hip contracture Laryngospasm Spinal rigidity Abnormally ossified vertebrae High pitched voice Skeletal muscle hypertrophy Mask-like facies Myotonia Overfolded helix Elbow dislocation Ectopia lentis Cachexia Abnormality of the urinary system Dysphonia Laryngomalacia Flexion contracture of toe Protrusio acetabuli Severe global developmental delay Dilatation Small for gestational age Camptodactyly of finger Retinopathy Wide mouth Abnormality of the eye Abnormality of the kidney Hypoplasia of the ear cartilage Proteinuria Pes cavus Pneumonia Hernia Microphthalmia Metatarsus valgus Cerebellar atrophy Hydrocephalus Ataxia Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality High forehead Abnormality of the pinna Weight loss Mandibular prognathia Round face Sudden cardiac death Tapered finger Wide nose Short palm Falls Carious teeth Facial palsy Kyphoscoliosis Dyspnea Generalized-onset seizure Hyperhidrosis Clinodactyly Intellectual disability, severe Fever Olivopontocerebellar hypoplasia Microphallus Sex reversal Thick upper lip vermilion Hypoplasia of the pons Nevus flammeus Cyanosis Interphalangeal joint contracture of finger Oculomotor apraxia Velopharyngeal insufficiency Abnormality of cardiovascular system morphology Tremor Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Large face Recurrent urinary tract infections Central apnea Narrow nose Acute kidney injury Limited elbow extension Disproportionate tall stature Overlapping toe Keratitis Radial deviation of finger Nasal speech Elbow flexion contracture Clitoral hypertrophy Hypergonadotropic hypogonadism Postnatal growth retardation Sensorimotor neuropathy Failure to thrive Visual fixation instability Abnormality of the cerebral cortex Delayed fine motor development Abnormality of brainstem morphology Long palpebral fissure Progressive spasticity Cortical gyral simplification Delayed gross motor development Thin upper lip vermilion Developmental regression Proptosis Peripheral neuropathy Almond-shaped palpebral fissure Slender build Abnormal cortical bone morphology Abnormality of digit Narrow face Joint hypermobility Long face Posteriorly rotated ears Respiratory failure Abnormal pyramidal sign Fasciculations Primitive reflex Ambiguous genitalia Nevus Spastic paraplegia Micropenis Hypogonadism Myoclonus Progressive leukoencephalopathy Frontoparietal polymicrogyria Diffuse leukoencephalopathy Psychomotor deterioration Severe lactic acidosis Lactic acidosis Pendular nystagmus Loss of speech Agitation Abnormality of mitochondrial metabolism Leukoencephalopathy Spastic tetraparesis Leukodystrophy Tetraparesis Wide intermamillary distance Metabolic acidosis Depressivity Abnormality of the liver Brachycephaly Pointed chin Polycystic kidney dysplasia Recurrent upper respiratory tract infections Recurrent skin infections Increased intracranial pressure Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Short chin Multicystic kidney dysplasia Cerebral visual impairment Hypoplastic toenails Lymphedema Tall stature Chronic diarrhea Renal dysplasia Abnormality of the genital system Broad-based gait Vesicoureteral reflux Renal cyst High, narrow palate Thick vermilion border Large hands 2-3 toe syndactyly Bulbous nose Toenail dysplasia Diabetes mellitus Severe short stature Brachydactyly Hepatomegaly Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Episodic vomiting Cellulitis Periorbital fullness Delayed CNS myelination Concave nasal ridge Heat intolerance Bruxism Arachnoid cyst Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Weak cry Thick eyebrow Unsteady gait Skin rash Hypoplastic left heart Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Malnutrition Body odor Obsessive-compulsive behavior Spontaneous abortion Psychosis Coarctation of aorta Eczema Cerebral calcification Asthma Nausea Dry skin Pruritus Folate deficiency Hyperphenylalaninemia Facial asymmetry Patent ductus arteriosus Nausea and vomiting Autistic behavior Protruding ear Intellectual disability, moderate Hydronephrosis Neonatal hypotonia Deeply set eye Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Immunodeficiency Prenatal maternal abnormality Intellectual disability, mild Atrial septal defect Ventricular septal defect Macrocephaly Hearing impairment Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Projectile vomiting


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Nausea and vomiting, related diseases and genetic alterations Intellectual disability, severe and Hip dislocation, related diseases and genetic alterations Delayed speech and language development and Hypoglycemia, related diseases and genetic alterations