High palate, and Erythema

Diseases related with High palate and Erythema

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

Top matches:

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Other less relevant matches:

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Short stature Abnormal facial shape Downslanted palpebral fissures Scoliosis Inflammatory abnormality of the skin Bruising susceptibility Pain Generalized hypotonia Ptosis Strabismus Seizures Frontal bossing Failure to thrive Proptosis Atopic dermatitis Hyperextensible skin Arachnodactyly Anemia Short nose Splenomegaly Recurrent infections Asthma Coarse facial features Prominent forehead Pruritus Delayed speech and language development Ataxia Skin rash Joint hypermobility Inguinal hernia

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Constipation Skin ulcer Blue sclerae Intellectual disability, severe Dysphagia Chronic otitis media Malar flattening Depressed nasal bridge Cutis marmorata Vomiting Hepatomegaly Micrognathia High forehead Hyperkeratosis Long philtrum Delayed gross motor development Abnormality of the sternum Cardiomegaly Dental malocclusion High, narrow palate Retinal dystrophy Abnormality of skin pigmentation Neoplasm Scarring Telecanthus Encephalopathy Hernia Cerebral atrophy Congestive heart failure Hepatosplenomegaly Short neck Ventricular septal defect Epicanthus Myopathy Myalgia Hypoplasia of the zygomatic bone Lymphedema Thin skin Low posterior hairline Pes planus Palmoplantar keratoderma Dry skin Genu valgum Postnatal growth retardation Thrombocytopenia Immunodeficiency Delayed skeletal maturation Pectus excavatum Redundant skin Hemolytic anemia Palmoplantar hyperkeratosis Abnormality of the skeletal system Patent ductus arteriosus Thickened skin Abnormal heart morphology Hyperhidrosis Patent foramen ovale Osteoporosis Arthralgia Eczematoid dermatitis Sensorineural hearing impairment Gastroesophageal reflux Dysarthria Recurrent respiratory infections Brachydactyly Flexion contracture Respiratory tract infection Eczema Lymphoma Recurrent skin infections Abnormal aortic valve morphology Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Inappropriate crying Abnormality of the pulmonary artery Abnormality of the auditory canal Thenar muscle atrophy Hyperextensibility of the finger joints Laryngeal cleft Prominent superficial veins Subvalvular aortic stenosis Thickened helices Irregular vertebral endplates Slow-growing hair Abnormal mitral valve morphology Multiple palmar creases Eyelid fasciculation Multiple plantar creases Oral aversion Cutaneous T-cell lymphoma Sparse or absent eyelashes Multiple lentigines Patchy alopecia Generalized ichthyosis Hypoplasia of the frontal lobes Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Optic nerve dysplasia Flat capital femoral epiphysis Broad femoral neck Functional abnormality of the gastrointestinal tract Puberty and gonadal disorders Flattened epiphysis Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Morphological abnormality of the gastrointestinal tract Coloboma Delayed CNS myelination Moderately short stature Absent eyebrow Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Large for gestational age Obsessive-compulsive behavior Biparietal narrowing Heart murmur Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Cigarette-paper scars Brittle hair Multiple cafe-au-lait spots Curly hair Gastrointestinal dysmotility Short attention span Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Short femoral neck Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the gastrointestinal tract Generalized hyperpigmentation Abnormality of the ulna Premature skin wrinkling Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Fatigue Muscular dystrophy Renal insufficiency Ascending aortic dissection Talipes equinovarus Motor delay Muscle weakness Cystic medial necrosis of the aorta Paroxysmal dyspnea Descending aortic dissection Abnormality iris morphology Descending thoracic aorta aneurysm Carotid artery dilatation Abnormality of connective tissue Prenatal maternal abnormality Abdominal aortic aneurysm Brachycephaly Dural ectasia Hypovolemia Thoracic aortic aneurysm Pneumothorax Left ventricular failure Peripheral arterial stenosis Aortic dissection Transient ischemic attack Subarachnoid hemorrhage Dilatation of the cerebral artery Hemoptysis Midface retrusion Narrow mouth Exertional dyspnea Facial hypotonia Smooth philtrum Clinodactyly Syndactyly Intrauterine growth retardation Microcephaly Single transverse palmar crease Hypoplasia of the musculature Tetralogy of Fallot Sloping forehead Bilateral sensorineural hearing impairment Cupped ear Fragile skin Camptodactyly Bilateral talipes equinovarus Adducted thumb Joint dislocation Dental crowding 2-3 toe syndactyly Mitral regurgitation Chromosome breakage Mitral valve prolapse Generalized muscle weakness Talipes Protruding ear Aortic root aneurysm Optic nerve coloboma Visual loss Purpura Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Reticulocytosis Acute kidney injury Rhabdomyolysis Aphasia Emotional lability Hemiplegia Spastic tetraparesis Hyperbilirubinemia Recurrent myoglobinuria Exercise intolerance Tetraparesis Migraine Joint contracture of the hand Muscle cramps Wide mouth Paralysis Mental deterioration Metaphyseal widening Jaundice Rod-cone dystrophy Short phalanx of finger Exercise-induced muscle cramps Small face Tall stature Coronary artery atherosclerosis Premature chromatid separation Hypoplasia of the cochlea Aortic aneurysm Skeletal dysplasia Ischemic stroke Bicuspid aortic valve Joint laxity Camptodactyly of finger Platyspondyly Aortic regurgitation Chest pain Abnormality of the metaphysis Tapered finger Delayed eruption of teeth Hypodontia Stroke Bifid uvula Short metacarpal Retrognathia Dilatation Waddling gait Hypertension Exercise-induced myoglobinuria Deep philtrum Ichthyosis Poor suck Increased IgE level Severe viral infections Onychomycosis Recurrent bacterial skin infections T-cell lymphoma Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Decrease in T cell count Red hair Recurrent sinopulmonary infections Recurrent candida infections Verrucae Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Recurrent sinusitis Bronchitis Squamous cell carcinoma Urticaria Eosinophilia Recurrent bacterial infections Hemivertebrae Recurrent Staphylococcus aureus infections Opportunistic infection Thick lower lip vermilion Convex nasal ridge Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Abnormality of retinal pigmentation Abnormal lung morphology Depressed nasal ridge Cutaneous photosensitivity Hepatitis Dehydration Hirsutism Lung abscess Carious teeth Papule Elevated hepatic transaminase Obesity Abnormality of metabolism/homeostasis Intellectual disability, mild Diarrhea Visual impairment Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Sinusitis Otitis media Systemic lupus erythematosus Heart block Cognitive impairment Subperiosteal bone formation Periostosis Hip pain Wide cranial sutures Long clavicles Seborrheic dermatitis Clubbing of fingers Osteolytic defects of the phalanges of the hand Flushing Joint swelling Myoclonus Growth hormone excess Arthropathy Thickened calvaria Disproportionate tall stature Acne Clubbing Wormian bones Large fontanelles Limitation of joint mobility Arthritis Cleft palate Hyporeflexia Conductive hearing impairment Prominent nose Vasculitis in the skin Recurrent fractures Wide nose Facial asymmetry Cough Craniosynostosis Deeply set eye Mandibular prognathia Pneumonia Wide nasal bridge Cortical myoclonus Autoimmune neutropenia Membranoproliferative glomerulonephritis Abnormality of the nervous system Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Glomerulonephritis Leukopenia Narrow palpebral fissure Vasculitis Lymphopenia Bronchiectasis Sensory impairment Neutropenia Reduced bone mineral density Psoriasiform dermatitis Relative macrocephaly Falls Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance Hepatic steatosis Thick vermilion border Bulbous nose Long face Webbed neck Peripheral axonal neuropathy Astigmatism Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Neurological speech impairment Leukemia Pectus carinatum Premature birth Growth hormone deficiency Sparse hair Abnormality of the nail Abnormality of vision Optic nerve hypoplasia Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Progressive visual loss Cerebral visual impairment Hyperpigmentation of the skin Cafe-au-lait spot Decreased body weight Open mouth Hemiparesis Myocardial infarction Fine hair Coarctation of aorta Narrow forehead Abnormality of the cardiovascular system Abnormal cardiac septum morphology Irritability Osteomyelitis Facial hirsutism Macrocephaly Myopia Feeding difficulties Low-set ears Cryptorchidism Cataract Muscular hypotonia Nystagmus Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Poliosis Ventriculomegaly Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Optic atrophy Anteverted nares Feeding difficulties in infancy Cerebral cortical atrophy Abnormality of the kidney Abnormality of the eye Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Aggressive behavior Hydronephrosis EEG abnormality Umbilical hernia Macrotia Polyhydramnios Autism Posteriorly rotated ears Hydrocephalus Alopecia Clinodactyly of the 5th finger Depressivity Abnormality of cardiovascular system morphology Kyphosis Behavioral abnormality Hypertonia Blindness Edema Atrial septal defect Cardiomyopathy Absent palmar crease


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