High palate, and Otitis media

Diseases related with High palate and Otitis media

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

Top matches:

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

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Other less relevant matches:

Medium match PFEIFFER SYNDROME

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Medium match HYDRANENCEPHALY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

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

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match FRAGILE X SYNDROME

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Otitis media

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Midface retrusion Intellectual disability Frontal bossing Chronic otitis media Abnormality of the dentition Mandibular prognathia Recurrent otitis media Seizures Feeding difficulties Micrognathia Generalized hypotonia Sinusitis Global developmental delay Cleft palate Depressed nasal bridge Abnormal facial shape Long face Delayed speech and language development Abnormality of the skeletal system Kyphosis Upslanted palpebral fissure Autism Pes planus Joint hypermobility Autistic behavior Intellectual disability, moderate Craniosynostosis High, narrow palate Protruding ear High forehead

Rare Symptoms - Less than 30% cases

Genu valgum Long hallux Natal tooth Dilatation Mitral regurgitation Conductive hearing impairment Pointed chin Wide mouth Broad forehead Mitral valve prolapse Gastroesophageal reflux Broad nasal tip Wide nose Thick vermilion border Growth delay Atrial septal defect Periventricular gray matter heterotopia Cone-shaped epiphysis Skeletal dysplasia Delayed eruption of teeth Dental malocclusion Large fontanelles Wormian bones Coxa vara Highly arched eyebrow Severe short stature Increased number of teeth Short clavicles Long philtrum Anteverted nares Failure to thrive Hypoplastic scapulae Narrow chest Joint laxity Attention deficit hyperactivity disorder Recurrent sinusitis Osteoporosis Pneumonia B lymphocytopenia Verrucae Coarse facial features Cough Bronchitis Recurrent infections Facial asymmetry Recurrent skin infections Recurrent fractures Recurrent bacterial infections Skin rash Hemivertebrae Microcephaly Recurrent respiratory infections Dysphagia Hyperactivity Epicanthus Telecanthus Anxiety Myopia Wide nasal bridge Macrocephaly Diarrhea Posteriorly rotated ears Constipation Immunodeficiency Decrease in T cell count Neck muscle hypoplasia Dimple chin Abnormal sacrum morphology Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Aggressive behavior Shoulder muscle hypoplasia Short face Cervical segmentation defect Cognitive impairment Muscular hypotonia Red hair Intellectual disability, severe Macrotia Cerebral cortical atrophy Absent speech Obesity Neonatal hypotonia Depressivity Persistence of primary teeth Pectus excavatum Abnormality of the thumb Severe viral infections Dystrophic fingernails Abnormality of pelvic girdle bone morphology Carious teeth Clinodactyly of the 5th finger Tapered finger Abnormality of the ribs Abnormality of epiphysis morphology Abnormality of dental enamel Spina bifida occulta Impaired neutrophil chemotaxis Sleep apnea Squamous cell carcinoma of the vulva Abnormality of the metacarpal bones Anal canal squamous carcinoma Lung abscess Opportunistic infection Open bite Dystrophic toenail Recurrent bacterial skin infections Fractures of the long bones Decreased skull ossification Recurrent fungal infections Down-sloping shoulders T-cell lymphoma Eczematoid dermatitis Onychomycosis Sprengel anomaly Brachycephaly Recurrent Staphylococcus aureus infections Hypoplasia of the zygomatic bone Recurrent candida infections Hearing abnormality Glossoptosis Sloping forehead Severe temper tantrums Neurological speech impairment Severe failure to thrive Synostosis of carpals/tarsals Pseudoepiphyses Delayed ossification of carpal bones Fused cervical vertebrae Rib fusion Misalignment of teeth Carpal synostosis Nystagmus Synostosis of carpal bones Freckling Tarsal synostosis Congenital sensorineural hearing impairment Horseshoe kidney Abnormal form of the vertebral bodies Decreased testicular size Failure of eruption of permanent teeth Cryptorchidism Full cheeks Hip dysplasia Colpocephaly Increased mean corpuscular volume Abnormal hair pattern Biparietal narrowing Proximal placement of thumb Optic nerve hypoplasia Preauricular skin tag Triangular face Visual impairment Astigmatism Smooth philtrum Dilated cardiomyopathy Thrombocytopenia Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Vesicoureteral reflux Short foot Postural instability Self-injurious behavior Macroorchidism Poor eye contact Broad palm Polyphagia Abnormality of neuronal migration Large hands Premature ovarian insufficiency Enuresis Relative macrocephaly Hyperkinesis Narrow face Hyperpigmentation of the skin Heterotopia Overgrowth Round face Large forehead Hyperextensibility of the finger joints Short palm Increased size of the mandible Abnormal cardiac septum morphology Postnatal growth retardation Abnormality of the eye Delayed skeletal maturation Recurrent sinopulmonary infections Congenital macroorchidism Folate-dependent fragile site at Xq28 Macroorchidism, postpubertal Ascending tubular aorta aneurysm Finger joint hypermobility Encopresis Oppositional defiant disorder Abnormal head movements Shyness Irregular dentition Mood swings Increased IgE level Pulmonic stenosis Hemihypertrophy Syringomyelia Short middle phalanx of the 5th finger Spondylolisthesis Osteolytic defects of the phalanges of the hand Hypoplastic iliac wing Abnormality of the clavicle Cone-shaped epiphyses of the phalanges of the hand Thickened calvaria Cervical ribs Short femoral neck Neonatal respiratory distress Increased susceptibility to fractures Short ribs Increased bone mineral density Hypoplasia of dental enamel Aplastic clavicle Delayed eruption of permanent teeth Respiratory distress Absent paranasal sinuses Low-set ears Abnormal facility in opposing the shoulders Long second metacarpal Persistent open anterior fontanelle Wide pubic symphysis Delayed pubic bone ossification Short middle phalanx of the 2nd finger Parietal foramina Large foramen magnum Spondylolysis Moderately short stature Hypoplastic frontal sinuses Parietal bossing Absent frontal sinuses Delayed eruption of primary teeth Malar flattening Tall chin Hydrocephalus Dehydration Conjunctivitis Recurrent pneumonia Meningitis Bronchiectasis Chronic diarrhea Hepatitis Decreased antibody level in blood Osteomyelitis Sepsis Neutropenia Malabsorption Arthritis Fatigue Fever Encephalitis Cellulitis Microtia, first degree Microtia Hyperventilation Toe walking Obsessive-compulsive behavior Hoarse voice Hypertrichosis Prominent nasal bridge Blepharophimosis External ear malformation Thin upper lip vermilion Narrow mouth Flexion contracture Ptosis Recurrent enteroviral infections Crohn's disease Agammaglobulinemia Downslanted palpebral fissures Short nose Chronic mucocutaneous candidiasis Neonatal hypoglycemia Prominent fingertip pads Sparse lateral eyebrow Generalized joint laxity Short 5th finger Depressed nasal tip Short columella Central hypotonia Eversion of lateral third of lower eyelids Long palpebral fissure Atrioventricular canal defect Cupped ear Long eyelashes Decreased body weight Coarctation of aorta Abnormality of the breast Prominent forehead Hirsutism Inflammatory abnormality of the skin Recurrent bronchitis Atopic dermatitis Squamous cell carcinoma Urticaria Eosinophilia Skin ulcer Thick lower lip vermilion Osteopenia Eczema Prominent nose Lymphoma Asthma Pruritus Erythema Deeply set eye Hypodontia Feeding difficulties in infancy Syndactyly Broad thumb Preaxial polydactyly Atresia of the external auditory canal Arnold-Chiari malformation Acanthosis nigricans Short thumb Dental crowding Choanal atresia Ankylosis Epidermal acanthosis Convex nasal ridge Hypoplasia of the maxilla Toe syndactyly Finger syndactyly Proptosis Polydactyly Broad hallux Shallow orbits Behavioral abnormality Brachyturricephaly Cartilaginous trachea Short middle phalanx of toe Bicoronal synostosis Shortening of all middle phalanges of the fingers Broad phalanx Elbow ankylosis Craniofacial dysostosis Coronal craniosynostosis Bronchomalacia Humeroradial synostosis Anterior plagiocephaly Oxycephaly Cloverleaf skull Tracheal stenosis Choanal stenosis Single median maxillary incisor


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