High palate, and Atopic dermatitis

Diseases related with High palate and Atopic dermatitis

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

Top matches:

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

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

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:

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

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

Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

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

Top 5 symptoms//phenotypes associated to High palate and Atopic dermatitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Inflammatory abnormality of the skin Short neck Delayed skeletal maturation Seizures Erythema Growth delay Failure to thrive Skin rash Low-set ears Acne Anteverted nares Coarse facial features Atrial septal defect Abnormality of the dentition Thick lower lip vermilion Osteopenia Ptosis High forehead Feeding difficulties Sparse hair High, narrow palate Deep philtrum Patent foramen ovale Pectus excavatum Prominent forehead Strabismus Epicanthus Dysphagia Hypertelorism Short nose Joint hypermobility Ataxia Abnormal heart morphology Brachydactyly Eczema Thickened skin Respiratory tract infection Abnormal facial shape Gastroesophageal reflux Hearing impairment

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Patent ductus arteriosus Feeding difficulties in infancy Abnormality of cardiovascular system morphology Vomiting Macrotia Umbilical hernia Hydrocephalus Ventriculomegaly Ventricular septal defect Aggressive behavior Downslanted palpebral fissures Alopecia of scalp Macrocephaly Scarring Hypertrophic cardiomyopathy Abnormality of the sternum Delayed speech and language development Cubitus valgus Redundant skin Cryptorchidism Palmoplantar hyperkeratosis Micrognathia Eczematoid dermatitis Verrucae Arthritis Chronic otitis media Hyperkeratosis Patchy alopecia Low-set, posteriorly rotated ears Neurodevelopmental delay Frontal balding Myopia Failure to thrive in infancy Muscular hypotonia Cleft palate Aplasia/Hypoplasia of the eyebrow Arnold-Chiari type I malformation Thrombocytopenia Abnormality of the testis Abnormality of refraction Neoplasm Slow-growing hair Thickened helices Abnormality of the pulmonary artery Kyphosis Relative macrocephaly Pectus carinatum Coarctation of aorta Abnormal location of ears Hypotrichosis Pulmonic stenosis Ichthyosis Webbed neck Growth hormone deficiency Low posterior hairline Optic nerve hypoplasia Hyperhidrosis Cafe-au-lait spot Hyperpigmentation of the skin Hoarse voice Alopecia Abnormal palate morphology Dolichocephaly Cardiomyopathy Recurrent respiratory infections Asthma Postnatal growth retardation Abnormality of the skeletal system Synophrys Craniosynostosis Lymphoma Osteoporosis Constipation Frontal bossing Immunodeficiency Dysarthria Microtia Pruritus Depressed nasal bridge Neutropenia Recurrent infections Abnormality of the nervous system Anemia Recurrent skin infections Vesicoureteral reflux Seborrheic dermatitis Clubbing of fingers Excessive wrinkled skin Abnormal myocardium morphology Hyperextensibility of the finger joints Osteolytic defects of the phalanges of the hand Abnormal mitral valve morphology Deep palmar crease Gastrointestinal dysmotility Abnormal aortic valve morphology Subvalvular aortic stenosis Abnormality of hair texture Increased nuchal translucency Cavernous hemangioma Hypoplasia of the frontal lobes Wormian bones Hyperkeratosis pilaris Clubbing Disproportionate tall stature Tongue thrusting Thickened calvaria Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Arthropathy Optic nerve dysplasia Multiple lentigines Growth hormone excess Abnormal tricuspid valve morphology Joint swelling Heart block Abnormality of the optic disc Anterior creases of earlobe Flushing Endocarditis Long clavicles Sparse or absent eyelashes Delayed CNS myelination Methylmalonic aciduria Abnormality of the optic nerve Scaling skin Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Melanocytic nevus Ectropion Pleural effusion Sparse eyebrow Neurofibromas Bilateral ptosis Brittle hair Hyperextensible skin Poor suck Hip pain Abnormality of vision Periostosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hydroureter Infantile spasms Dystrophic fingernails Absent eyelashes Abnormal hair pattern Thick upper lip vermilion Woolly hair Puberty and gonadal disorders Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Wide cranial sutures Premature skin wrinkling Hypoplasia of the zygomatic bone Enlarged kidney Long palpebral fissure Abnormal eyelash morphology Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Abnormality of the hairline Large fontanelles Morphological abnormality of the gastrointestinal tract Decreased methylcobalamin Arteriosclerosis Angina pectoris Cerebral hemorrhage Macular degeneration Blue sclerae Mitral valve prolapse Gastrointestinal hemorrhage Reduced visual acuity Hyperhomocystinemia Megaloblastic bone marrow Intermittent claudication Decreased adenosylcobalamin Decreased methionine synthase activity Cystathioninuria Cystathioninemia Respiratory distress Dystonia Aplasia/Hypoplasia of the corpus callosum Absent speech Carcinoma Papule Retinal hemorrhage Angioid streaks of the fundus Abnormal blistering of the skin Aciduria Juvenile rheumatoid arthritis Homocystinuria Megaloblastic anemia Macrocytic anemia Rheumatoid arthritis Incoordination Psychosis Pancytopenia Methylmalonic acidemia Abnormality of the skin Lethargy Calcification of falx cerebri Small for gestational age Developmental regression Glossitis Thin upper lip vermilion Acidosis Yellow papule Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Medial calcification of large arteries Peau d'orange Memory impairment Visual loss Cutaneous T-cell lymphoma Protruding ear Primary amenorrhea Tongue nodules Amenorrhea Renal agenesis Hirsutism Bilateral intracranial calcifications Thick eyebrow Pain Short philtrum Obesity Abnormality of the gingiva Flexion contracture Arthralgia Oral aversion Limitation of joint mobility Multiple plantar creases Eyelid fasciculation Stomatitis Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Hoarse cry Paranoia Hypertension Facial hirsutism Cerebral calcification Visual impairment Subcutaneous nodule Aplasia/Hypoplasia of the fallopian tube Hallucinations Oligodontia Aplasia of the vagina Oral-pharyngeal dysphagia Fragile skin Pustule Delusions Unilateral renal agenesis Increased serum testosterone level Microglossia Nasal polyposis Abnormal oral mucosa morphology Abnormal vagina morphology Aplasia of the uterus Shield chest Abnormality of the ovary High anterior hairline Hypoplasia of the uterus Hemangioma Clinodactyly of the 5th finger Cutis laxa Urticaria Red hair Increased IgE level Recurrent sinopulmonary infections Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Recurrent sinusitis Bronchitis Squamous cell carcinoma Eosinophilia Persistence of primary teeth Recurrent bacterial infections Hemivertebrae Skin ulcer Sinusitis Otitis media Prominent nose Recurrent fractures Wide nose Facial asymmetry Cough Decrease in T cell count B lymphocytopenia Mandibular prognathia Impaired neutrophil chemotaxis Cyanosis Dandy-Walker malformation Wide intermamillary distance Thin vermilion border Carious teeth Attention deficit hyperactivity disorder Hypoglycemia Retrognathia Hypothyroidism Hyperactivity Squamous cell carcinoma of the vulva Fractures of the long bones Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections T-cell lymphoma Recurrent fungal infections Deeply set eye Pneumonia Sparse scalp hair Leukopenia Midface retrusion Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Glomerulonephritis Narrow palpebral fissure Severe short stature Vasculitis Lymphopenia Bronchiectasis Sensory impairment Hemolytic anemia Conductive hearing impairment Myoclonus Hyporeflexia Cognitive impairment Sensorineural hearing impairment Agenesis of corpus callosum Brachycephaly Wide nasal bridge Overlapping toe Dysplasia of the femoral head Hypoplastic helices Dysplastic corpus callosum Vertebral clefting Anotia Coronal cleft vertebrae Bifid nasal tip Hypoplasia of the odontoid process Aplasia cutis congenita Metaphyseal dysplasia Epiphyseal dysplasia Neonatal hypotonia Abnormality of the outer ear Recurrent urinary tract infections Depressed nasal ridge Renal hypoplasia Oligohydramnios Hypodontia Highly arched eyebrow Flat face Anal atresia Abnormality of the pinna Ventricular hypertrophy Mitral regurgitation Oculomotor apraxia Genu valgum Retinal dystrophy Bruising susceptibility Bulbous nose Falls Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Dry skin Astigmatism Hypermetropia Hepatic steatosis Abnormality of the cerebral white matter Nail dystrophy Neurological speech impairment Leukemia Abnormal cardiac septum morphology Irritability Abnormality of the kidney Abnormality of the eye Telecanthus Hydronephrosis Thick vermilion border Sleep disturbance Polyhydramnios Fine hair Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Lymphedema Decreased body weight Open mouth Hemiparesis Myocardial infarction Cardiomegaly Palmoplantar keratoderma Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Dental malocclusion Premature birth Intestinal malrotation Nevus Full cheeks Abnormal bleeding Abdominal distention EEG abnormality Proptosis Thin skin Freckling Redundant neck skin Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Natal tooth Abnormality of coagulation Dermal translucency Right bundle branch block Hypoplastic toenails Overfolded helix Nasal speech Coarse hair Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Hypocalcemia Peripheral pulmonary artery stenosis Abnormality of the intervertebral disk Autism Congestive heart failure Cerebral cortical atrophy Inguinal hernia Encephalopathy Depressivity Hernia Cerebral atrophy Malar flattening Long philtrum Splenomegaly Behavioral abnormality Hypertonia Superior pectus carinatum Blindness Intellectual disability, severe Edema Optic atrophy Hepatomegaly Cataract Nystagmus Abnormality of the nasal bridge Broad fingertip Loose anagen hair Subperiosteal bone formation


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