Cleft palate, and Eosinophilia

Diseases related with Cleft palate and Eosinophilia

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


Top matches:

Medium match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

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Other less relevant matches:

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low 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

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


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

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match DIAMOND-BLACKFAN ANEMIA 11; DBA11


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Anemia
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 11; DBA11

Low match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Ventricular septal defect Micrognathia Abnormality of the kidney Blue sclerae Scoliosis Wide nasal bridge Malar flattening Craniosynostosis Clinodactyly Posteriorly rotated ears Patent ductus arteriosus Abnormal heart morphology Hepatosplenomegaly Abnormality of the skeletal system Frontal bossing Abnormal cardiac septum morphology Recurrent infections Cataract Hypertelorism Thrombocytopenia Seizures Sensorineural hearing impairment Absent radius Pneumonia Horseshoe kidney Hypoplasia of the radius Hearing impairment Skin rash Recurrent fractures Strabismus Phocomelia Skin ulcer

Rare Symptoms - Less than 30% cases


Tibial torsion Talipes equinovarus Allergy Brachydactyly Downslanted palpebral fissures Reticulocytopenia High palate Flexion contracture Osteolysis Aplasia of the ulna Lactose intolerance Epicanthus Glaucoma Hydrocephalus Cleft upper lip Finger syndactyly Edema Anteverted nares Ptosis Tetraphocomelia Bilateral radial aplasia Intermittent thrombocytopenia Elbow flexion contracture Renal agenesis Renal cyst Postnatal growth retardation Microphthalmia Cognitive impairment Alopecia Hyperkeratosis Absent thumb Cleft lip Severe sensorineural hearing impairment Proptosis Erythema Hernia Verrucae Brachycephaly Oligodactyly Corneal opacity Hypoplasia of the ulna Lymphoma Coarctation of aorta Epistaxis Cough Asthma Macrocytic anemia Polydactyly Osteopenia Pruritus Syndactyly Prominent forehead Dilatation Delayed eruption of teeth Respiratory distress Eczema Chronic otitis media Failure to thrive Fever Depressed nasal bridge Neutropenia Deeply set eye Bifid uvula Hypertension Mitral valve prolapse Abnormality of the dentition Increased IgE level Abnormality of the hair Recurrent fungal infections Severe viral infections Recurrent Staphylococcus aureus infections Anal canal squamous carcinoma Eczematoid dermatitis Recurrent candida infections Onychomycosis T-cell lymphoma Opportunistic infection Fractures of the long bones Lung abscess B lymphocytopenia Recurrent bacterial skin infections Hepatomegaly Squamous cell carcinoma of the vulva Diabetes mellitus Congenital diaphragmatic hernia Sparse and thin eyebrow Sparse eyebrow Conductive hearing impairment Pes planus Dyspnea Mixed hearing impairment Hypothyroidism Micropenis Submucous cleft hard palate Impaired neutrophil chemotaxis Hypogonadism Severe short stature Delayed skeletal maturation Broad neck Splenomegaly Intellectual disability, mild Ventriculomegaly Decrease in T cell count Hyperreflexia Generalized hypotonia Persistence of primary teeth Recurrent sinusitis Red hair Supernumerary ribs Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Granulocytopenia Absent hand Retinal hemorrhage Asymmetric growth Deviation of finger Immunodeficiency Cerebral ischemia Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Dysphagia Constipation Recurrent sinopulmonary infections Recurrent bacterial infections Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Atopic dermatitis Camptodactyly Bronchitis Squamous cell carcinoma Urticaria Recurrent skin infections Hemivertebrae Osteoporosis Sinusitis Inflammatory abnormality of the skin Thick lower lip vermilion Otitis media Prominent nose Wide nose Joint hypermobility Facial asymmetry Coarse facial features Mandibular prognathia Low-set, posteriorly rotated ears Lymphadenopathy Apnea Communicating hydrocephalus Histiocytosis Skin nodule Elevated serum creatinine Velopharyngeal insufficiency Nasal obstruction Recurrent pharyngitis Bone marrow hypocellularity Decreased serum testosterone level Bicuspid aortic valve Varicose veins Hyperuricemia Atresia of the external auditory canal Radioulnar synostosis Aspiration pneumonia Stenosis of the external auditory canal Abnormal eyelid morphology Abnormal eyebrow morphology Increased mean corpuscular volume Anemia of inadequate production Forearm reduction defects Enlarged kidney Gout Chronic rhinitis Abnormal facial shape Snoring Nephropathy Proteinuria Intrauterine growth retardation Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Chronic kidney disease Cervical lymphadenopathy Stiff skin Episcleritis Abnormality of cardiovascular system physiology Panniculitis Facial telangiectasia Preaxial polydactyly Myelofibrosis Generalized lymphadenopathy Corneal arcus Focal segmental glomerulosclerosis Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Exocrine pancreatic insufficiency Episodic fever Retinopathy Wide intermamillary distance Bronchiectasis Primary amenorrhea Hypertrichosis Hypertriglyceridemia Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Overgrowth Amenorrhea Decreased testicular size Growth hormone deficiency Gingival overgrowth Full cheeks Polyneuropathy Flat face Ichthyosis Hematuria Abnormality of the foot Delayed puberty Malabsorption Hypotrichosis Pectus carinatum Telangiectasia Hyperpigmentation of the skin Polycythemia Microtia Scleroderma Lipoatrophy Microcytic anemia Hemiplegia/hemiparesis Elevated erythrocyte sedimentation rate Feeding difficulties Increased antibody level in blood Midface retrusion Hallux valgus Leukocytosis Hyperglycemia Gynecomastia Stridor Psoriasiform dermatitis Lipodystrophy Webbed neck Sleep apnea Azoospermia Plagiocephaly Type I diabetes mellitus Hypergonadotropic hypogonadism Aspiration Supernumerary nipple Fused cervical vertebrae Keratitis Short neck Prominent nasal bridge Short philtrum Coloboma Sparse hair Paralysis Skeletal dysplasia Retrognathia Polyhydramnios Hypospadias Low-set ears Underdeveloped nasal alae Cryptorchidism Microcephaly Quadricuspid aortic valve Patellar subluxation Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Talipes Convex nasal ridge Total anomalous pulmonary venous return Radial deviation of finger Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Fibular hypoplasia Cystic hygroma Short femoral neck Anonychia Bilateral talipes equinovarus Clitoral hypertrophy Oligohydramnios Polycystic kidney dysplasia Melanoma Abnormality of the metacarpal bones Cranial nerve paralysis Opacification of the corneal stroma Knee flexion contracture Cafe-au-lait spot Recurrent urinary tract infections Abnormality of the genital system Encephalocele Hematemesis Anomalous pulmonary venous return Low hanging columella Generalized abnormality of skin Abnormality of the cardiovascular system Gastrointestinal hemorrhage Bruising susceptibility Nausea Pectus excavatum Abnormality of cardiovascular system morphology Diarrhea Vomiting Fatigue Paronychia Short thumb Atelectasis Dystrophic fingernails Gingivitis Cellulitis Skin vesicle Osteomyelitis Abnormality of the face Joint hyperflexibility Papule Recurrent respiratory infections Atrial fibrillation Abnormal vertebral morphology Complete atrioventricular canal defect Limited elbow extension Ecchymosis Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Heart block Short clavicles Thoracic scoliosis Short humerus Atrioventricular canal defect Petechiae Bradycardia Hypoplastic left heart Right bundle branch block Bundle branch block Menorrhagia Bowing of the legs Triphalangeal thumb Atrioventricular block Aortic regurgitation Finger clinodactyly Aortic valve stenosis Bilateral cleft lip Bilateral cleft lip and palate Abnormality of dental morphology Cervical ribs Edema of the dorsum of feet Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Renal malrotation Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Generalized tonic-clonic seizures with focal onset Axial malrotation of the kidney Lateral clavicle hook Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Seborrheic dermatitis Patellar aplasia Delayed CNS myelination Aplastic anemia Shoulder muscle hypoplasia Cow milk allergy Chromosome breakage Retinal detachment Encephalitis Hypopigmented skin patches Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Pulmonary arterial hypertension Abnormal blistering of the skin Hypodontia Abnormality of skin pigmentation Muscular hypotonia Oral cleft Attention deficit hyperactivity disorder Camptodactyly of finger Umbilical hernia Cerebral cortical atrophy Hyperhidrosis Congestive heart failure Gait disturbance Visual impairment Spasticity Duodenal atresia Cardiorespiratory arrest Eyelid coloboma Triangular mouth Clinodactyly of the 5th finger Intellectual disability, severe Motor delay Premature separation of centromeric heterochromatin Midface capillary hemangioma Enlarged labia minora Frontal encephalocele Absent earlobe Talipes equinovalgus Bilateral renal agenesis Agenesis of corpus callosum Accessory spleen Craniofacial dysostosis Narrow naris Wrist flexion contracture Hydranencephaly Hand oligodactyly Biliary tract abnormality Long penis Subvalvular aortic stenosis Bicornuate uterus Cerebellar hypoplasia Leukemia Patellar dislocation Spina bifida Carpal synostosis Nevus flammeus Megalocornea Focal impaired awareness seizure Intracranial hemorrhage Genu varum Adducted thumb Hemangioma Coxa valga Short phalanx of finger Hip dislocation Left ventricular hypertrophy Broad thumb Cerebellar vermis hypoplasia Ventricular hypertrophy Tetralogy of Fallot Focal-onset seizure Decreased antibody level in blood Intestinal malrotation Sepsis Severe global developmental delay Mandibulofacial dysostosis



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