Cleft palate, and Eczema

Diseases related with Cleft palate and Eczema

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


Top matches:

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


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

Low 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 PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

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Other less relevant matches:

Low match LOEYS-DIETZ SYNDROME 1; LDS1


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

Low 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

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Low match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Hearing impairment Microcephaly Patent ductus arteriosus Hypertelorism Recurrent infections Short stature Hydrocephalus Atrial septal defect Hypoplasia of the corpus callosum Dry skin Ptosis Hypospadias Anemia Cryptorchidism Dilatation Hydronephrosis Generalized hypotonia Intrauterine growth retardation Craniosynostosis Abnormality of cardiovascular system morphology Absent speech Blepharophimosis Umbilical hernia Thrombocytopenia Kyphosis Submucous cleft hard palate Ventricular septal defect Failure to thrive Strabismus Frontal bossing Cataract Micrognathia Posteriorly rotated ears Flexion contracture Pectus excavatum Abnormal heart morphology Delayed skeletal maturation Hyperhidrosis Bicuspid aortic valve Camptodactyly Retrognathia Depressed nasal bridge Clinodactyly of the 5th finger Seborrheic dermatitis Multicystic kidney dysplasia Myopia Hernia Vesicoureteral reflux

Rare Symptoms - Less than 30% cases


Sparse scalp hair Finger clinodactyly Dementia Joint dislocation Epicanthus Arnold-Chiari malformation Sacral dimple Pulmonic stenosis Bulbous nose Aortic aneurysm Cutaneous photosensitivity Brachydactyly Fine hair Underdeveloped nasal alae Small hand Myopathic facies Narrow palpebral fissure Nystagmus Abnormality of the sternum Wide mouth Protruding ear Open mouth High anterior hairline Spondylolisthesis Nasal speech Toe syndactyly Alopecia Anal stenosis Scaling skin Cerebellar hypoplasia Upslanted palpebral fissure Cerebral cortical atrophy Developmental regression Ichthyosis Unilateral renal agenesis Hemolytic anemia Psoriasiform dermatitis Abnormality of the hand Renal dysplasia Widely spaced teeth Overfolded helix Neoplasm Specific learning disability Absent septum pellucidum Pierre-Robin sequence Hip dislocation Scarring Mental deterioration Muscular hypotonia Ventriculomegaly Macrotia Intellectual disability, severe Immunodeficiency Obesity Long philtrum Hypoparathyroidism Ectodermal dysplasia Anxiety Conductive hearing impairment Hypothyroidism Hyperactivity Depressivity Asthma Prominent nasal bridge Nail dystrophy Hypotrichosis Anal atresia Oral cleft Nail dysplasia Cerebellar atrophy Wide intermamillary distance Microdontia Inflammatory abnormality of the skin Delayed speech and language development Cognitive impairment Abnormality of the nail Conjunctivitis Ectrodactyly Alopecia of scalp Abnormal facial shape Short neck Postaxial hand polydactyly Growth delay Bifid uvula Joint hyperflexibility Abnormality of the skeletal system Giant platelets Acute lymphoblastic leukemia Gingival overgrowth Skeletal dysplasia Polydactyly Macrocephaly Paronychia Abnormality of the hair Skin ulcer Abnormality of the face Lymphoma Papule Clinodactyly Prominent forehead Recurrent respiratory infections Fever Wide nasal bridge Disproportionate tall stature Acne Redundant skin Large fontanelles Skin rash Erythema Arthritis Coarse facial features Osteopenia Malar flattening Delayed eruption of teeth Inguinal hernia Pes planus Broad forehead Arachnodactyly Joint laxity Abnormal eyelash morphology Impaired T cell function Duodenal stenosis Blepharitis Parakeratosis Uveitis Oligodactyly Atonic seizures Abnormality of the vertebral column Congenital ichthyosiform erythroderma Absent eyelashes Mixed hearing impairment Paranoia Hydroureter Absent eyebrow Retinal vascular tortuosity Keratitis Intestinal obstruction Bifid scrotum Right aortic arch Mood swings Abnormal eyelid morphology Dysmetria Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Pear-shaped nose Recurrent corneal erosions Erythroderma Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Congenital cataract Aplasia of the uterus Graves disease Corneal erosion Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Velopharyngeal insufficiency Psychotic episodes Conotruncal defect Abnormality of hair pigmentation Postaxial polydactyly Congenital conductive hearing impairment Pulmonary hypoplasia Astigmatism Talipes Platyspondyly Positional foot deformity Corneal opacity Camptodactyly of finger Respiratory tract infection Broad chin Abnormality of the kidney Hypotrophy of the small hand muscles Right aortic arch with mirror image branching Photophobia Behavioral abnormality Aggressive behavior Sacral meningocele Unilateral lung agenesis Hyperkeratosis Palmoplantar keratoderma Brain atrophy Abnormal nasolacrimal system morphology Hypoplasia of dental enamel Urticaria Conspicuously happy disposition Plagiocephaly Opacification of the corneal stroma Abnormality of dental enamel Recurrent bacterial infections Hemivertebrae Abnormal vertebral morphology Hypohidrosis Aplasia of the thymus Perineal fistula Aganglionic megacolon Omphalocele Choanal atresia Arteria lusoria Autoimmunity Epidermal acanthosis Abnormality of the ribs Central nervous system degeneration Vascular ring Oligohydramnios Subcortical cerebral atrophy Long fingers Abnormality of temperature regulation Apathy Abnormality of the genital system Schizophrenia Status epilepticus Cholelithiasis Renal agenesis Dysdiadochokinesis Hypotelorism Rheumatoid arthritis Hip dysplasia Focal-onset seizure Purpura Otitis media Obsessive-compulsive behavior Hypoplasia of the brainstem Inflammation of the large intestine Abnormality of the ear Everted lower lip vermilion High, narrow palate Abnormality of hair texture Joint hypermobility Holoprosencephaly Heterotopia Cleft upper lip Vertebral fusion Impulsivity Sparse eyebrow Elbow dislocation Failure to thrive in infancy Pyloric stenosis Amenorrhea Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Narrow palate Hypocalcemia Slender finger Peripheral demyelination Prominent metopic ridge Tetralogy of Fallot Psychosis Low posterior hairline Primary amenorrhea Hallucinations Glioma Spina bifida Long face Poor speech Hyperconvex fingernails Pulmonary artery atresia Prominent fingertip pads Motor delay Expressive language delay Multifocal epileptiform discharges Echolalia Abnormality of the pinna Narrow palm Abnormality of the endocrine system Chorea Low-set ears Truncus arteriosus Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Juvenile rheumatoid arthritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Cortical dysplasia Myelomeningocele Delusions Abnormality of the foot Anteverted ears Abnormality of the head Basal ganglia calcification Hypermetropia Small for gestational age Abnormal cardiac septum morphology Pallor Feeding difficulties in infancy Autoimmune hemolytic anemia Intellectual disability, moderate Axonal loss Hypertension Cleft lip Chronic infection Autoimmune thrombocytopenia High forehead Posterior embryotoxon Bipolar affective disorder Vitiligo Vomiting Hearing abnormality Meningocele Episcleritis Cerebral atrophy Severe short stature Osteoarthritis Dilatation of the cerebral artery Rhinitis Aortic root aneurysm Atrophic scars Hallux valgus Ectopia lentis Microretrognathia Joint contracture of the hand Exotropia Mitral regurgitation Blue sclerae Soft skin Mitral valve prolapse Bruising susceptibility Thin vermilion border Facial asymmetry Dolichocephaly Pectus carinatum Kyphoscoliosis Proptosis Talipes equinovarus Downslanted palpebral fissures Short 3rd metacarpal Scaphocephaly Narrow nose Folate deficiency Descending thoracic aorta aneurysm Abnormality of skin pigmentation Malabsorption Attention deficit hyperactivity disorder Postnatal growth retardation Low-set, posteriorly rotated ears Telecanthus Respiratory insufficiency Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Pulmonary artery aneurysm Sagittal craniosynostosis Multiple suture craniosynostosis Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Long toe Hyposegmentation of neutrophil nuclei Median cleft palate Sloping forehead Joint swelling Subperiosteal bone formation Periostosis Eczematoid dermatitis Hip pain Wide cranial sutures Long clavicles Clubbing of fingers Osteolytic defects of the phalanges of the hand Flushing Heart block Growth hormone excess Cough Arthropathy Thickened calvaria Clubbing Patent foramen ovale Palmoplantar hyperkeratosis Wormian bones Thickened skin Limitation of joint mobility Arthralgia Osteoporosis Pain Deeply set eye Pruritus Lower limb hypertonia Leukemia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Recurrent otitis media Neutropenia Generalized tonic-clonic seizures Pes cavus Recurrent fractures Edema Generalized abnormality of skin Increased IgE level Atelectasis Dystrophic fingernails Gingivitis Cellulitis Skin vesicle Osteomyelitis Chronic otitis media Eosinophilia Short foot Broad thumb Agenesis of corpus callosum Wide nose Limb undergrowth Overgrowth Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Delayed myelination Gliosis Sepsis Generalized myoclonic seizures Downturned corners of mouth Short distal phalanx of finger Hypsarrhythmia Hepatic failure Cirrhosis Abnormality of eye movement Stroke Apnea Abnormality of the eye Muscular hypotonia of the trunk Neonatal hypotonia Polyhydramnios Narrow mouth Micropenis Generalized-onset seizure Small nail Myoclonus Hemoglobinuria Microphthalmia Respiratory distress Feeding difficulties Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Breech presentation Postnatal microcephaly Developmental stagnation Cardiorespiratory arrest Epileptic spasms Central hypotonia Infantile spasms Prominent occiput Large for gestational age Elevated alkaline phosphatase Deep philtrum Cerebral visual impairment Tall stature Respiratory failure Pneumonia Chronic diarrhea Underdeveloped supraorbital ridges Hypodontia Finger syndactyly Midface retrusion Syndactyly Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Aplasia/Hypoplasia of the thumb Thin skin Delayed cranial suture closure Metatarsus adductus Cutis marmorata Hypoplastic toenails Aplasia/Hypoplasia of the corpus callosum Sandal gap Spina bifida occulta Abnormality of the fingernails Low anterior hairline Narrow face Wide anterior fontanel Split hand Oligodontia Encephalopathy Fingernail dysplasia Short nose Anteverted nares Hyperreflexia Hepatomegaly Spasticity Adermatoglyphia Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Nail pits Lacrimal duct stenosis Toenail dysplasia Dermal atrophy Nasolacrimal duct obstruction Breast hypoplasia Absent nipple Sparse axillary hair Generalized hypopigmentation Fair hair Split foot Hypoplastic nipples Freckling Abnormality of dental morphology Melanocytic nevus Unilateral primary pulmonary dysgenesis



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