High palate, and Lymphedema

Diseases related with High palate and Lymphedema

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

Top matches:

Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

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

Other less relevant matches:

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

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

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

High, narrow palate

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus

Common Symptoms - More than 50% cases

Pectus excavatum

Uncommon Symptoms - Between 30% and 50% cases

Joint hypermobility Proptosis Nystagmus Webbed neck Delayed speech and language development Micrognathia Feeding difficulties Gastroesophageal reflux Hearing impairment Short stature Hypertrophic cardiomyopathy Generalized hypotonia Scoliosis Low-set ears Macrocephaly Pulmonic stenosis Sparse hair Depressed nasal bridge Hepatomegaly Low-set, posteriorly rotated ears Vomiting Intellectual disability, mild Thrombocytopenia Low posterior hairline Neoplasm Short neck Myopia Ventriculomegaly Patent ductus arteriosus Abnormal heart morphology Coarse facial features Hypermetropia Polyhydramnios Muscular hypotonia Abnormality of cardiovascular system morphology Constipation Edema Thick vermilion border Cardiomyopathy Growth delay Dental malocclusion Failure to thrive in infancy Malar flattening Abnormal bleeding Kyphoscoliosis Arrhythmia Pectus carinatum Postnatal growth retardation Frontal bossing Congestive heart failure Hernia Genu valgum Posteriorly rotated ears Hypogonadism Feeding difficulties in infancy Delayed skeletal maturation Dysphagia Coarctation of aorta Behavioral abnormality Arnold-Chiari malformation Poor suck Arnold-Chiari type I malformation Multiple lentigines Failure to thrive Dysarthria Bruising susceptibility Hyperhidrosis Macrotia Pointed chin Neuroblastoma Cognitive impairment Abnormality of the dentition Redundant skin Long philtrum Cutis laxa Abnormal dermatoglyphics Narrow palate Clinodactyly of the 5th finger Cafe-au-lait spot Hydronephrosis Irritability Midface retrusion Vesicoureteral reflux Sleep disturbance Full cheeks Dolichocephaly Leukemia Aggressive behavior Decreased body weight Cubitus valgus Pleural effusion Hyperkeratosis Splenomegaly Abnormal mitral valve morphology Prominent forehead Abnormality of the testis Short nose High forehead Curly hair

Rare Symptoms - Less than 30% cases

Osteopenia Bulbous nose Hyperpigmentation of the skin Cardiomegaly Cataract Growth hormone deficiency Premature birth Nevus Astigmatism Depressivity Dilatation Inguinal hernia Long eyelashes Cerebral cortical atrophy Cerebral visual impairment Sensorineural hearing impairment Short chin Hypoplastic toenails Delayed CNS myelination Tongue thrusting Abnormality of the genital system Intellectual disability, moderate Facial asymmetry Generalized hyperpigmentation Tricuspid regurgitation Pain Hydrops fetalis Pes cavus Motor delay Hyperextensibility of the finger joints Deep palmar crease Thick upper lip vermilion Woolly hair Headache Hemangioma Neurodevelopmental delay Large for gestational age Absent speech Heart murmur Autism Hyperextensible skin Umbilical hernia EEG abnormality Relative macrocephaly Cerebral atrophy Brachydactyly Hypertonia Renal insufficiency Reduced factor XII activity Cystic hygroma Male infertility Redundant neck skin Shield chest Synovitis Schwannoma Abnormality of refraction Amegakaryocytic thrombocytopenia Superior pectus carinatum Loose anagen hair Microcephaly Premature skin wrinkling Talipes equinovarus Thickened nuchal skin fold Neurological speech impairment Delayed puberty Joint hyperflexibility Mitral valve prolapse Thick lower lip vermilion Melanocytic nevus Neurofibromas Pterygium Kyphosis Abnormal pulmonary valve morphology Hydrocephalus Anteverted nares Bilateral ptosis Myopathy Abnormal location of ears Fever Puberty and gonadal disorders Clinodactyly Hyperkeratosis pilaris Muscle weakness Amblyopia Abnormality of the pulmonary artery Abnormal cardiac septum morphology Broad forehead Hypotrichosis Thickened helices Triangular face Abdominal distention Wide intermamillary distance Ventricular hypertrophy Left ventricular hypertrophy Deep philtrum Neurofibrosarcoma High anterior hairline Abnormality of the fingernails Apraxia Overgrowth Otitis media Respiratory tract infection Abnormality of the kidney Joint laxity Carcinoma Neonatal hypotonia Optic atrophy Abnormality of the coagulation cascade Arthrogryposis multiplex congenita Concave nasal ridge Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Myopathic facies Hypoplasia of dental enamel Malignant hyperthermia Intellectual disability, severe Diarrhea Recurrent infections Obesity Tachycardia Hepatosplenomegaly Erythema Inflammatory abnormality of the skin Pruritus Dry skin Palmoplantar keratoderma Hepatitis Rhabdomyolysis Abnormality of the sternum Clumsiness Ventricular arrhythmia Tall stature Accelerated skeletal maturation Large hands Acute lymphoblastic leukemia Ulnar deviation of the wrist Long palpebral fissure Vitreomacular adhesion Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Tendon rupture Acute kidney injury Alveolar rhabdomyosarcoma Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Lymphangiectasis Atopic dermatitis Infantile spasms Scaphocephaly Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Myoglobinuria Absent eyebrow Obsessive-compulsive behavior Congenital neuroblastoma Thickened Achilles tendon Poor appetite Alopecia of scalp Ectropion Hyperkalemia Endocarditis Increased nuchal translucency Sparse or absent eyelashes Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Cardiomyocyte hypertrophy Abnormal aortic valve morphology Subvalvular aortic stenosis Slow-growing hair Gastrointestinal dysmotility Abnormal myocardium morphology Abnormal eyelash morphology Abnormality of the optic nerve Dystrophic fingernails Macrocephaly at birth Abnormal hair pattern Enlarged cerebellum Myofiber disarray Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Absent eyelashes Enlarged kidney Chronic otitis media Scaling skin Anterior creases of earlobe Long face Narrow forehead Left ventricular noncompaction Abnormality of the cardiovascular system Progressive visual loss Respiratory arrest Diaphragmatic eventration Intestinal malrotation Congenital ptosis Hepatic steatosis Retinal dystrophy Falls Abnormality of skin pigmentation Fine hair Peripheral axonal neuropathy Ichthyosis Long upper lip Abnormality of the cerebral white matter Nail dystrophy Scarring Abnormality of the eye Telecanthus Sinus tachycardia Mixed respiratory and metabolic acidosis Alopecia Severe lactic acidosis Myocardial infarction Sparse eyebrow Sleep apnea Systolic heart murmur Brittle hair Thoracic kyphosis Low hanging columella Abnormality of vision Increased corneal curvature Palmoplantar hyperkeratosis Optic nerve hypoplasia Dilated cardiomyopathy Delayed gross motor development Abnormality of the genitourinary system Hyperphosphatemia Hemiparesis Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cardiac arrest Oculomotor apraxia Sparse eyelashes Abnormality of the nail Right ventricular hypertrophy Aspiration Breech presentation Thickened skin Open mouth Frontal balding Abnormality of the optic disc Duodenal ulcer Fragile nails Labial hypoplasia Lack of skin elasticity Central apnea Verrucae Large forehead Achilles tendon contracture Large earlobe Progeroid facial appearance Deep-set nails Barrel-shaped chest Megalencephaly Microscopic hematuria Broad philtrum Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Central hypotonia Tracheomalacia Ulnar deviation of finger Keratoconus Reduced subcutaneous adipose tissue Rocker bottom foot Asymmetric septal hypertrophy Vestibular Schwannoma Bilateral cryptorchidism Bronchomalacia Bladder neoplasm Hypopnea Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Concentric hypertrophic cardiomyopathy Thin nail Large face Papilloma Transitional cell carcinoma of the bladder Fasting hypoglycemia Fetal distress Limited elbow movement Abnormality of earlobe Ganglioneuroblastoma Broad femoral neck Shyness Rhabdomyosarcoma Frontal hirsutism Pneumothorax Concave nail Hypoplasia of teeth Ventricular fibrillation Hyperglycemia Abnormal tricuspid valve morphology Multiple palmar creases Bladder carcinoma Hypoglycemia Respiratory failure Osteoporosis Severe short stature Encephalopathy Abnormality of the skeletal system Hypertension Oral aversion Multiple plantar creases Eyelid fasciculation Abnormality of the auditory canal Abnormality of the nervous system Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Abnormality of the hairline Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Postprandial hyperglycemia Choroid plexus papilloma Apnea Aortic aneurysm Atrial fibrillation Pyloric stenosis Laryngomalacia Infantile muscular hypotonia Acanthosis nigricans Abnormality of dental enamel Hoarse voice Abnormality of the hair Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Wide anterior fontanel Neonatal sepsis Epidermal acanthosis Body odor Eczema Hip dysplasia Abnormality of the skin Sepsis Macroglossia Tetraplegia Ascites Postural instability Hematuria Wide nose Wide mouth Respiratory insufficiency Visual impairment Tachypnea Bruxism Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Pes planus Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Jaundice Heat intolerance Arachnoid cyst Mandibular prognathia Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Recurrent skin infections Rigidity Proximal muscle weakness Increased intracranial pressure Poliosis Elevated erythrocyte sedimentation rate Primary amenorrhea Abnormality of the hip bone Aplasia/Hypoplasia of the skin Amenorrhea Abnormality of the immune system Chronic lung disease Pericardial effusion White forelock Abnormality of the middle ear Hypoplastic nipples Posterior choanal atresia Myalgia Facial hirsutism Flexion contracture Abdominal pain Crusting erythematous dermatitis Diffuse telangiectasia Rod-cone dystrophy Recurrent cystitis Limb muscle weakness Hyperreflexia Muscular dystrophy Stroke Hyperlordosis Poor head control Abnormality of the outer ear Plagiocephaly Small cell lung carcinoma Narrow face Immunodeficiency Reduced number of teeth Precocious puberty Gait disturbance Wide nasal bridge Nephroblastoma Agenesis of permanent teeth Partial agenesis of the corpus callosum Poor coordination Abnormality of the cerebral ventricles Gray matter heterotopias Abnormal vertebral morphology Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Hyporeflexia Elevated serum creatine phosphokinase Sacral dimple Thick eyebrow Conductive hearing impairment Multicystic kidney dysplasia Hypohidrosis Dental crowding Chronic diarrhea Nephrolithiasis Renal dysplasia Broad-based gait Acidosis Renal cyst Hypodontia Renal agenesis Agenesis of corpus callosum Hepatic failure Unsteady gait Nausea and vomiting Autistic behavior Protruding ear Abnormality of the pinna Sloping forehead Anxiety Small nail Deeply set eye Heterotopia Hyperactivity Petechiae Azoospermia Shock Recurrent respiratory infections Abnormal hair quantity Enlarged thorax Myeloproliferative disorder Elevated circulating luteinizing hormone level Muscle cramps Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Abnormality of metabolism/homeostasis Elevated circulating follicle stimulating hormone level Metabolic acidosis Abnormality of the helix Acute leukemia Abnormality of the lymphatic system Abnormality of the mouth Pulmonary artery stenosis Aortic root aneurysm Thoracic scoliosis Abnormality of digit Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Elevated hepatic transaminase Abnormality of the thorax Skin rash Chylothorax Prolonged QRS complex Abnormality of the urinary system Morphological abnormality of the inner ear Blindness Anemia Lumbar hyperlordosis Ataxia Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Aplasia of the semicircular canal Abnormality of the mandible Hypoplasia of lymphatic vessels Enlarged cisterna magna Decreased fetal movement Prominent nasolabial fold Hypotension Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Prominent fingertip pads Unilateral ptosis Intestinal lymphangiectasia Radioulnar synostosis Coarse hair Bicuspid aortic valve Abnormality of the vertebral column Abnormality of retinal pigmentation Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Recurrent pneumonia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Generalized hirsutism Optic disc hypoplasia Reduced bone mineral density Abnormality of color vision Leukocytosis Radial deviation of finger Systemic lupus erythematosus Myelodysplasia Patent foramen ovale Choanal atresia Elevated alkaline phosphatase Psoriasiform dermatitis Osteomyelitis Increased antibody level in blood Asymmetry of the thorax Lymphangioma Scapular winging Lactic acidosis Hypogonadotrophic hypogonadism Aortic valve stenosis Papule Mitral regurgitation Carious teeth Arachnodactyly Tetralogy of Fallot Hirsutism Asthma Convex nasal ridge Dehydration Cutaneous photosensitivity Hypoplastic aortic arch Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Depressed nasal ridge Juvenile myelomonocytic leukemia Panuveitis Myotonia Thin skin Abnormal lung morphology Multiple pterygia


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