Cleft palate, and Encephalitis

Diseases related with Cleft palate and Encephalitis

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


Top matches:

Medium match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Medium match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

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Other less relevant matches:

Medium match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Low match IMMUNODEFICIENCY 44; IMD44


Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Related symptoms:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 44; IMD44

Low match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fever Talipes equinovarus Growth delay Generalized hypotonia Muscular hypotonia Abnormal facial shape Pneumonia Meningitis Hypertelorism Scoliosis Short neck Immunodeficiency Cognitive impairment Recurrent infections Talipes Sepsis Weight loss Thrombocytopenia Neutropenia Diarrhea Osteopenia Cerebral cortical atrophy Chronic diarrhea Gait disturbance Constipation Microcephaly Midface retrusion Depressed nasal bridge Micrognathia Stomatitis Short stature High palate Low-set ears Frontal bossing Hyperreflexia Brachydactyly Hydrocephalus Vomiting

Rare Symptoms - Less than 30% cases


Skin rash Alopecia Finger syndactyly Microphthalmia Hyperhidrosis Progressive spasticity Cataract Congestive heart failure Visual impairment Pulmonary arterial hypertension Encephalopathy Hypertension Esotropia Flexion contracture Bicuspid aortic valve Recurrent respiratory infections Blue sclerae Recurrent otitis media Feeding difficulties Muscle weakness Dysarthria Macrocephaly Agammaglobulinemia Depressivity Recurrent bacterial infections Recurrent pneumonia Sinusitis Respiratory failure Decreased antibody level in blood Oral-pharyngeal dysphagia Cough EEG abnormality Abnormality of the skeletal system Hyperlordosis Absent hand Verrucae Hypoplastic fingernail Chorea Supernumerary nipple Muscle stiffness Leukoencephalopathy Pulmonic stenosis Strabismus Respiratory distress Gastroesophageal reflux Otitis media Thick eyebrow Genu valgum Abnormality of the foot Encephalocele Microtia Rhizomelia Abnormality of the kidney Multiple joint dislocation Pes planus Joint dislocation Kyphoscoliosis Delayed skeletal maturation Premature birth Hypospadias Malar flattening Short nose Hypertonia Spondyloepiphyseal dysplasia Anteverted nares 11 pairs of ribs Wide nasal bridge Epicanthus Ptosis Hearing impairment Cryptorchidism Short metacarpal Motor delay Abnormal cardiac septum morphology Ventricular septal defect Proptosis Drooling Abnormal heart morphology Narrow chest Brachycephaly Intestinal pseudo-obstruction Sparse hair Lethal skeletal dysplasia Cerebellar hypoplasia Venous malformation Coronal cleft vertebrae Long clavicles Fibular aplasia Laryngeal stenosis Aplasia/Hypoplasia of the ulna Dilatation Patent ductus arteriosus Absent fingernail Abnormality of cardiovascular system morphology Fused cervical vertebrae Hemiparesis Aplastic/hypoplastic toenail Acrania Short femur Toe syndactyly Cleft upper lip Aplasia cutis congenita on trunk or limbs Cirrhosis Aplasia cutis congenita over posterior parietal area Prominent nasal bridge Polymicrogyria Gastrointestinal hemorrhage Imperforate hymen Short distal phalanx of finger Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Ascites Syndactyly Chylothorax Atrial septal defect Abnormality of the metacarpal bones Aplasia/Hypoplasia of the skin Multinucleated giant chondrocytes in epiphyseal cartilage Cortical dysplasia Hypoplastic left heart Cutis marmorata Portal hypertension Tetralogy of Fallot Coarctation of aorta Cutaneous finger syndactyly Small nail Leukopenia Distal tapering femur Aortic valve stenosis Telangiectasia Pachygyria Split hand Nail dysplasia Aplasia cutis congenita Intrauterine growth retardation Thoracic platyspondyly Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplasia of the corpus callosum Oligodactyly Abnormality of the lower limb Arteriovenous malformation Club-shaped proximal femur Calvarial skull defect Leukemia Pulmonary artery stenosis Central hypotonia Ventriculomegaly Double outlet right ventricle Abnormal lung morphology Downslanted palpebral fissures Respiratory insufficiency due to muscle weakness Anemia Protracted diarrhea Pyelonephritis Hypoplasia of the thymus Recurrent aphthous stomatitis Heat intolerance Progressive encephalopathy Amelogenesis imperfecta Episodic fever Anhidrosis Gowers sign Hypocalcemia Splenomegaly Ectodermal dysplasia Lymphadenopathy Dry skin Difficulty walking Pectus excavatum Myopathy Opsoclonus Abnormality of mitochondrial metabolism Shock Cerebral visual impairment Metabolic acidosis Acidosis Hepatomegaly Carcinoma Bilateral elbow dislocations Chronic hepatitis IgE deficiency Opportunistic infection Agranulocytosis Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Increased IgM level Dysgammaglobulinemia IgM deficiency Abnormality of the liver Cholangitis Gingivitis Recurrent lower respiratory tract infections IgG deficiency Hepatocellular carcinoma IgA deficiency Involuntary movements Clumsiness Choreoathetosis Neurodegeneration Hemolytic anemia Autoimmunity Myoclonus Metacarpophalangeal joint hyperextensibility Hernia Microdontia Microretrognathia Elbow flexion contracture Lymphedema Amblyopia Left ventricular hypertrophy Bell-shaped thorax Mitral regurgitation Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Mitral valve prolapse Webbed neck Sandal gap Recurrent fractures Flat face Arachnodactyly Hypermetropia Hip dislocation Pectus carinatum Joint laxity Narrow mouth Glaucoma Osteoporosis Prominent forehead Inguinal hernia Accelerated skeletal maturation Cutis laxa Broad distal phalanges of all fingers Small face Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Generalized osteoporosis Hyperextensible skin Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Radioulnar synostosis Patent foramen ovale Radial bowing Hypersomnia Loss of speech Oral cleft Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Abnormal blistering of the skin Hypodontia Delayed eruption of teeth Retinal detachment Abnormality of skin pigmentation Corneal opacity Osteolysis Attention deficit hyperactivity disorder Camptodactyly of finger Erythema Umbilical hernia Hyperkeratosis Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Abnormality of the fingernails Spina bifida occulta Widely-spaced maxillary central incisors Cerebral ischemia Fatigue Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Retinal hemorrhage Asymmetric growth Supernumerary ribs Deviation of finger Dystrophic toenail Hypopigmented skin patches Abnormal toenail morphology Hearing abnormality Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Hemiplegia/hemiparesis Keratitis Abnormality of dental morphology Eosinophilia Equinovarus deformity Talipes calcaneovalgus Malabsorption Thin upper lip vermilion Vesicoureteral reflux Macroglossia Tapered finger Thick vermilion border Paraplegia Nail dystrophy Spastic paraplegia Dolichocephaly Wide mouth Telecanthus Coarse facial features Narrow forehead Micropenis Hyperactivity Hypogonadism Upslanted palpebral fissure Posteriorly rotated ears Clinodactyly Obesity Intellectual disability, severe Optic atrophy Sensorineural hearing impairment Decreased testicular size Renal hypoplasia Bilateral renal hypoplasia Bilateral cryptorchidism U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Mild short stature Radial deviation of finger Thick lower lip vermilion Tented upper lip vermilion Scrotal hypoplasia Infantile muscular hypotonia Widely spaced teeth Intellectual disability, progressive Increased body weight Narrow face Exotropia Abnormality of the genital system Open mouth Arthritis Dehydration Short humerus Hyperpigmented nevi Polyhydramnios Mandibular prognathia Autism Abdominal pain Severe short stature Delayed speech and language development Pain Diffuse demyelination of the cerebral white matter Microcoria Recurrent singultus Skeletal dysplasia Progressive macrocephaly Pseudobulbar signs Large face Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Drowsiness Macrotia Deeply set eye Muscle fibrillation Aspiration Atonic seizures Tibial bowing Flat occiput Clubbing Elbow dislocation Short metatarsal Hyperkinesis Disproportionate short-limb short stature Abnormality of the outer ear Absence seizures Recurrent urinary tract infections Anxiety Lumbar hyperlordosis Limb undergrowth Generalized myoclonic seizures Abdominal distention Inability to walk Nausea Poor speech Generalized tonic-clonic seizures Autistic behavior Respiratory tract infection Atrophy/Degeneration affecting the brainstem Bowel incontinence Hepatitis Recurrent enteroviral infections Diabetes mellitus Dementia Agenesis of corpus callosum Hyporeflexia Kyphosis Respiratory insufficiency Dysphagia Tremor Nystagmus Ataxia Crohn's disease Facial palsy B lymphocytopenia External ear malformation Recurrent sinusitis Bronchitis Cellulitis Osteomyelitis Chronic otitis media Recurrent skin infections Conjunctivitis Bronchiectasis Hypothyroidism Developmental regression Dysphasia Peripheral demyelination Emotional lability Self-injurious behavior Precocious puberty Dysphonia Sleep apnea Abnormal autonomic nervous system physiology Leukodystrophy Clonus Diplopia Cerebral calcification Amenorrhea Abnormal pyramidal sign Hypotension Gliosis Sudden cardiac death Tetraplegia Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Neurological speech impairment Impaired memory B cell generation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Rheumatoid arthritis, related diseases and genetic alterations Hydrocephalus and Blindness, related diseases and genetic alterations Low-set ears and Abnormality of the cerebral white matter, related diseases and genetic alterations Ptosis and Ichthyosis, related diseases and genetic alterations Cleft palate and Hydronephrosis, related diseases and genetic alterations Micrognathia and Feeding difficulties in infancy, related diseases and genetic alterations

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