High palate, and Asthma

Diseases related with High palate and Asthma

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

Top matches:

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

High 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:

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

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

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

High match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Eczema Recurrent infections Anemia Hearing impairment Seizures Scoliosis Craniosynostosis Wide nasal bridge Cataract Micrognathia Strabismus Growth delay Skin rash Pruritus Short stature Inflammatory abnormality of the skin Malar flattening Lymphoma Erythema Ptosis Recurrent respiratory infections Brachydactyly Depressed nasal bridge Cryptorchidism Abnormal facial shape Failure to thrive Myopia Dry skin Thrombocytopenia Talipes equinovarus Intellectual disability, severe Arachnodactyly Hydronephrosis Cleft palate

Rare Symptoms - Less than 30% cases

Skin ulcer Postnatal growth retardation Hallux valgus Attention deficit hyperactivity disorder Narrow nose Iron deficiency anemia Recurrent bacterial infections Protruding ear Convex nasal ridge Bicuspid aortic valve Sparse scalp hair Facial asymmetry Cutaneous photosensitivity Low anterior hairline Nystagmus Abnormality of the fingernails Osteopenia Hypertension Mitral regurgitation Hydrocephalus Hirsutism Proptosis Blepharophimosis Splenomegaly High, narrow palate Vomiting Obesity Downslanted palpebral fissures Camptodactyly Hepatomegaly Hepatosplenomegaly Joint contracture of the hand Visual impairment Prominent forehead Pectus excavatum Respiratory distress Intrauterine growth retardation Clinodactyly of the 5th finger Hypospadias Abnormality of cardiovascular system morphology Dental crowding Delayed speech and language development Broad thumb Pneumonia Neutropenia Epicanthus Atrial septal defect Lymphopenia Bronchiectasis Postaxial hand polydactyly Poor coordination Respiratory insufficiency Pulmonic stenosis Leukopenia Congenital contracture Short foot Muscle weakness Immunodeficiency Generalized hypotonia Cognitive impairment Sensorineural hearing impairment Ataxia Spasticity Flexion contracture Clinodactyly Hyporeflexia Pectus carinatum Atopic dermatitis Hernia Patent ductus arteriosus Joint laxity Abnormality of the dentition Frontal bossing Recurrent skin infections Arnold-Chiari malformation Ectopia lentis Menstrual irregularities Microretrognathia Abnormality of the ovary Gait imbalance Aortic aneurysm Undetectable electroretinogram Broad foot Vaginal atresia Blue sclerae Pes planus Truncal obesity Bifid uvula Macular dystrophy Bruising susceptibility Thin vermilion border Dolichocephaly Osteoarthritis Exotropia Mitral valve prolapse Nephronophthisis Hypoplasia of the uterus Finger clinodactyly Foot polydactyly Joint dislocation Broad forehead External genital hypoplasia Kyphoscoliosis Skeletal dysplasia Midface retrusion Varicose veins Premature loss of teeth Abnormality of lipid metabolism Long fingers Unilateral renal agenesis Failure to thrive in infancy Tented upper lip vermilion Prominent superficial veins Cutis laxa Plagiocephaly Pulmonary arterial hypertension Single transverse palmar crease Disproportionate tall stature Tapered finger Sepsis Kyphosis Hypoplasia of the thymus Tapetoretinal degeneration Hydrometrocolpos Microphallus Biliary tract abnormality Retrognathia Renal agenesis Posteriorly rotated ears Nephrogenic diabetes insipidus Dilatation Giant platelets Septate vagina Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Myopathic facies Motor delay Atrophic scars Reduced phenylalanine hydroxylase activity Abnormality of skin pigmentation Joint hyperflexibility Malabsorption Toe syndactyly Wide mouth Low-set, posteriorly rotated ears Telecanthus Delayed skeletal maturation Neoplasm Maternal hyperphenylalaninemia Phenylpyruvic acidemia Delayed eruption of teeth Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Small hand Sloping forehead Self-mutilation Aplasia/Hypoplasia of the thumb Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Underdeveloped supraorbital ridges Submucous cleft hard palate Delayed cranial suture closure Fine hair Metatarsus adductus Cutis marmorata Hypoplastic toenails Sacral dimple Aplasia/Hypoplasia of the corpus callosum Sandal gap Spina bifida occulta Narrow face Wide anterior fontanel Chronic diarrhea Blue irides Scleroderma Abnormality of the sternum Thoracic aortic aneurysm Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Ascending tubular aorta aneurysm Biconvex vertebral bodies Dermal translucency Long toe Sagittal craniosynostosis Spondylolisthesis High anterior hairline Soft skin Scaphocephaly Dilatation of the cerebral artery Rhinitis Aortic root aneurysm Bicuspid pulmonary valve Radial deviation of finger Hypoplastic left heart Irritability Malnutrition Obsessive-compulsive behavior Spontaneous abortion Psychosis Coarctation of aorta Cerebral calcification Delayed myelination Nausea Abnormality of the cerebral white matter Abnormality of the liver Aggressive behavior Hyperreflexia Anxiety Autism Hyperactivity Abnormal heart morphology Depressivity Headache Behavioral abnormality Hypertonia Hypoplasia of the corpus callosum Anteverted nares Tremor Tricuspid regurgitation Camptodactyly of toe Clubbing Verrucae T-cell lymphoma Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Decrease in T cell count Red hair Increased IgE level Recurrent sinopulmonary infections Hemihypertrophy Recurrent bacterial skin infections Chronic mucocutaneous candidiasis Recurrent bronchitis Recurrent sinusitis Bronchitis Squamous cell carcinoma Chronic otitis media Urticaria Eosinophilia Hemivertebrae Eczematoid dermatitis Onychomycosis Thick lower lip vermilion Abnormality of metabolism/homeostasis Hepatitis Dehydration Palmoplantar keratoderma Genu valgum Carious teeth Papule Elevated hepatic transaminase High forehead Hyperkeratosis Short nose Severe viral infections Intellectual disability, mild Diarrhea Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Sinusitis Otitis media Depressed nasal ridge Short femoral neck Conductive hearing impairment Gastroesophageal reflux Myoclonus Dysarthria Sinus tachycardia Vertical nystagmus Metaphyseal cupping Thoracic scoliosis Generalized amyotrophy Metaphyseal irregularity Respiratory tract infection Coxa vara Decreased body weight Broad-based gait Peripheral demyelination Sensory neuropathy Congenital cataract Severe short stature Pes cavus Peripheral neuropathy Abnormality of the nervous system Hemolytic anemia Prominent nose Dysphagia Recurrent fractures Wide nose Joint hypermobility Cough Deeply set eye Coarse facial features Mandibular prognathia Osteoporosis Constipation Cortical myoclonus Sensory impairment Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Glomerulonephritis Narrow palpebral fissure Vasculitis Low posterior hairline Thin skin Anosmia Long metacarpals Polydactyly Glaucoma Diabetes mellitus Hypogonadism Rod-cone dystrophy Syndactyly Renal insufficiency Macrocephaly Slender metacarpals Glenoid fossa hypoplasia Reduced visual acuity Distal ulnar hypoplasia Narrow foot Ulnar bowing Long hallux Lateral clavicle hook Eclabion Hypoplastic scapulae Choanal stenosis Single umbilical artery Micropenis Abnormality of the kidney Abnormal eyebrow morphology Decreased testicular size Situs inversus totalis Hepatic fibrosis Left ventricular hypertrophy Aganglionic megacolon Abnormality of the genital system Primary amenorrhea Pigmentary retinopathy Amenorrhea Specific learning disability Hypodontia Coloboma Retinal dystrophy Postaxial polydactyly Iris coloboma Stage 5 chronic kidney disease Retinal degeneration Astigmatism Paraplegia Neurological speech impairment Retinopathy Sclerocornea Dislocated radial head Abnormal lung morphology Petechiae White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Increased antibody level in blood Poliosis Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Lymphedema Abnormality of retinal pigmentation Abnormality of the middle ear Facial hirsutism Thin ribs Ambiguous genitalia Slender long bone Narrow nasal bridge Femoral bowing Stridor Laryngomalacia Knee flexion contracture Elbow flexion contracture Cardiac arrest Bowing of the long bones Dandy-Walker malformation Crusting erythematous dermatitis Underdeveloped nasal alae Triangular face Hypoplasia of the maxilla Everted lower lip vermilion Macrotia Narrow mouth Muscular hypotonia Recurrent cystitis Diffuse telangiectasia Abnormality of thumb phalanx


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